LOVD - Variant listings for DNAJB6

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-/- 1_10 c.=
    + c.279C>G
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 4-generation family, 12 affecteds Finland - - familial, autosomal dominant - - 9 normal - 3x -
-/- 1_10 c.=
    + c.279C>G
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs mild/moderate, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 3-generation family, 4 affecteds Finland - - familial, autosomal dominant - - 3 2-3x -
-/- 1_10 c.=
    + c.279C>G
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 2-generation family, affected father/son Finland - - isolated (sporadic) - - 1 3x -
-/- 1_10 c.=
    + c.279C>G
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 2-generation family, affected mother/son Finland - - isolated (sporadic) - - 2 normal - 8x -
-/- 1_10 c.=
    + c.279C>G
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 2-generation family, affected mother/son Finland - - isolated (sporadic) - - 1 normal -
-/- 1_10 c.=
    + c.265T>A
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Speer 1995, Speer 1999, JdD 6-generation family, 19 affecteds, 1 unaffected young carrier United States - - familial, autosomal dominant - - 11 normal - 10x -
-/- 1_10 c.=
    + c.265T>A
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs mild/severe, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Speer 1995, Speer 1999, JdD 7-generation family, 33 affecteds, 1 unaffected young carrier United States - - familial, autosomal dominant - - 20 normal - 3.5x -
-/- 1_10 c.=
    + c.279C>A
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure JdD 4-generation family, 8 affecteds Italy - - familial, autosomal dominant - - 8 2x -
-/- 1_10 c.=
    + c.277T>C
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure JdD 3-generation family, 4 affecteds Italy - - familial, autosomal dominant - - 4 normal - 8x -
-/- 1_10 c.=
    + c.277T>C
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) proximal predominant weakness arms/legs, waddling gait; 56y-motorized wheelchair JdD Fam1; 3-generation family, 7 affecteds, PatII2 United States Caucasian F familial, autosomal dominant - - 1 1118 -
-/- 1_10 c.=
    + c.277T>C
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) proximal predominant weakness arms/legs, Gower’s sign, waddling gait; 56y-motorized wheelchair; short duration small amplitude polyphasic MUPs quadriceps/deltoid muscles JdD Fam1; 3-generation family, 7 affecteds, PatII3 United States Caucasian M familial, autosomal dominant - - 1 632 -
-/- 1_10 c.=
    + c.277T>C
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) proximal predominant weakness legs, mildly waddling gait JdD Fam1; 3-generation family, 7 affecteds, PatII7 United States Caucasian F familial, autosomal dominant - - 1 543 -
-/- 1_10 c.=
    + c.277T>C
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) mild proximal predominant weakness lower extremities; EMG fibs, PSW, increased insertional activity, with early recruitment small-amplitude narrow-duration MUPs in iliopsoas/quadriceps muscles JdD Fam1; 3-generation family, 7 affecteds, PatIII1 United States Caucasian M familial, autosomal dominant - - 1 742 -
-/- 1_10 c.=
    + c.277T>C
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) proximal leg weakness with waddling gait, Gower’s maneuver JdD Fam1; 3-generation family, 7 affecteds, PatIII2 United States Caucasian F familial, autosomal dominant - - 1 233 -
-/- 1_10 c.=
    + c.287C>G
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - myopathy distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness; 62y-motorized wheelchair JdD Fam2; 4-generation family, 9 affecteds, PatIII1 United States African American F familial, autosomal dominant - - 1 - -
-/- 1_10 c.=
    + c.287C>G
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - myopathy distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness ; NCS small CMAPs, normal SNAPs; EMG fibs, PSW with narrow, short-amplitude MUP and early recruitment JdD Fam2; 4-generation family, 9 affecteds, PatIII5 United States African American M familial, autosomal dominant - - 1 278 -
-/- 1_10 c.=
    + c.287C>G
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - myopathy diffuse lower extremity weakness, severe distal/moderate proximal upper extremity weakness; NCS small CMAPs, normal SNAPs; EMG fibs and PSW with narrow, short-amplitude MUP and early recruitment JdD Fam2; 4-generation family, 9 affecteds, PatIII6 United States African American M familial, autosomal dominant - - 1 339 -
-/- 1_10 c.=
    + c.265T>A
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle, type 1E (LGMD-1E) limb girdle weakness United States:Marshfield, WI - United States - F familial, autosomal dominant - - 1 normal muscle biopsy suggestive of inclusion body myopathy
-/- 1_10 c.=
    + c.265T>A
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - - dystrophy, muscular, limb-girdle (LGMD) - United States:Marshfield, WI - United States - M familial, autosomal dominant - - 1 2,000 -
+/? 5 c.? - r.? p.Phe93Gly DNAJB6_00000 mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b - Sarparanta 2012 DNA SEQ - - in vitro - JdD - - - - - - - 1 - -
+/? 5 c.? - r.? p.Phe93Ala DNAJB6_00000 mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b - Sarparanta 2012 DNA SEQ - - in vitro - JdD - - - - - - - 1 - -
-/? 5 c.? - r.? p.Phe89Gly DNAJB6_00000 mRNA infection expression in zebrafish embryos; no effect - Sarparanta 2012 DNA SEQ - - in vitro - JdD - - - - - - - 1 - -
+/? 5 c.265T>A
    + c.=
267T>A r.267u>a p.Phe89Ile DNAJB6_00002 mapped by linkage; not in 430 control chromosomes; segregates; variant 267T>A error (see FigS2c) germline (inherited) Sarparanta 2012 DNA, RNA RT-PCR, SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Speer 1995, Speer 1999, JdD 6-generation family, 19 affecteds, 1 unaffected young carrier United States - - familial, autosomal dominant - - 11 normal - 10x -
+/? 5 c.265T>A
    + c.=
- r.267u>a p.Phe89Ile DNAJB6_00002 mapped by linkage; not in 430 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA, RNA RT-PCR, SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs mild/severe, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Speer 1995, Speer 1999, JdD 7-generation family, 33 affecteds, 1 unaffected young carrier United States - - familial, autosomal dominant - - 20 normal - 3.5x -
+/? 5 c.265T>A 267T>A r.267u>a p.Phe89Ile DNAJB6_00002 mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b (not DNAJB6a), effect more severe when p.= coinjected - Sarparanta 2012 DNA, RNA SEQ - - in vitro - JdD - - - - - - - 1 - -
+/? 5 c.265T>A 267T>A r.267u>a p.Phe89Ile DNAJB6_00002 293FT cell expression increased DNAJB6 half-life (increased effect p.= co-expressed) - Sarparanta 2012 DNA, RNA SEQ - - in vitro - JdD - - - - - - - 1 - -
+/? 5 c.265T>A 267T>A r.267u>a p.Phe89Ile DNAJB6_00002 expression cloning with pEGFP/HD-120Q significantly impaired anti-aggregation function - Sarparanta 2012 DNA, RNA SEQ - - in vitro - JdD - - - - - - - 1 - -
-/? 5 c.265T>A 267T>A r.267u>a p.Phe89Ile DNAJB6_00002 COS-1 cell expression, no effect on BAG3, HSPB8 and STUB1 co-IP - Sarparanta 2012 DNA, RNA SEQ - - in vitro - JdD - - - - - - - 1 - -
+/? 5 c.265T>A
    + c.=
- r.(?) p.(Phe89Ile) DNAJB6_00002 - germline (inherited) - DNA PCR, SEQ - - dystrophy, muscular, limb-girdle, type 1E (LGMD-1E) limb girdle weakness United States:Marshfield, WI - United States - F familial, autosomal dominant - - 1 normal muscle biopsy suggestive of inclusion body myopathy
+/? 5 c.265T>A
    + c.=
- r.(?) p.(Phe89Ile) DNAJB6_00002 - germline (inherited) - DNA PCR, SEQ - - dystrophy, muscular, limb-girdle (LGMD) - United States:Marshfield, WI - United States - M familial, autosomal dominant - - 1 2,000 -
+/? 5 c.277T>C
    + c.=
- r.(?) p.(Phe93Leu) DNAJB6_00004 not in 208 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure JdD 3-generation family, 4 affecteds Italy - - familial, autosomal dominant - - 4 normal - 8x -
+/? 5 c.277T>C
    + c.=
- r.(?) p.(Phe93Leu) DNAJB6_00004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes germline (inherited) Harms 2012 DNA SEQ, SEQ-NG-I - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) proximal predominant weakness arms/legs, waddling gait; 56y-motorized wheelchair JdD Fam1; 3-generation family, 7 affecteds, PatII2 United States Caucasian F familial, autosomal dominant - - 1 1118 -
+/? 5 c.277T>C
    + c.=
- r.(?) p.(Phe93Leu) DNAJB6_00004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes germline (inherited) Harms 2012 DNA SEQ, SEQ-NG-I - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) proximal predominant weakness arms/legs, Gower’s sign, waddling gait; 56y-motorized wheelchair; short duration small amplitude polyphasic MUPs quadriceps/deltoid muscles JdD Fam1; 3-generation family, 7 affecteds, PatII3 United States Caucasian M familial, autosomal dominant - - 1 632 -
+/? 5 c.277T>C
    + c.=
- r.(?) p.(Phe93Leu) DNAJB6_00004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes germline (inherited) Harms 2012 DNA SEQ, SEQ-NG-I - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) proximal predominant weakness legs, mildly waddling gait JdD Fam1; 3-generation family, 7 affecteds, PatII7 United States Caucasian F familial, autosomal dominant - - 1 543 -
+/? 5 c.277T>C
    + c.=
- r.(?) p.(Phe93Leu) DNAJB6_00004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes germline (inherited) Harms 2012 DNA SEQ, SEQ-NG-I - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) mild proximal predominant weakness lower extremities; EMG fibs, PSW, increased insertional activity, with early recruitment small-amplitude narrow-duration MUPs in iliopsoas/quadriceps muscles JdD Fam1; 3-generation family, 7 affecteds, PatIII1 United States Caucasian M familial, autosomal dominant - - 1 742 -
+/? 5 c.277T>C
    + c.=
- r.(?) p.(Phe93Leu) DNAJB6_00004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes germline (inherited) Harms 2012 DNA SEQ, SEQ-NG-I - - dystrophy, muscular, limb-girdle, type 1 (LGMD-1) proximal leg weakness with waddling gait, Gower’s maneuver JdD Fam1; 3-generation family, 7 affecteds, PatIII2 United States Caucasian F familial, autosomal dominant - - 1 233 -
+/? 5 c.279C>A
    + c.=
- r.(?) p.(Phe93Leu) DNAJB6_00003 not in 208 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure JdD 4-generation family, 8 affecteds Italy - - familial, autosomal dominant - - 8 2x -
+/? 5 c.279C>G
    + c.=
- r.279c>g p.Phe93Leu DNAJB6_00001 mapped by linkage; not in 404 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA, RNA RT-PCR, SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 4-generation family, 12 affecteds Finland - - familial, autosomal dominant - - 9 normal - 3x -
+/? 5 c.279C>G
    + c.=
- r.279c>g p.Phe93Leu DNAJB6_00001 mapped by linkage; not in 404 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA, RNA RT-PCR, SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs mild/moderate, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 3-generation family, 4 affecteds Finland - - familial, autosomal dominant - - 3 2-3x -
+/? 5 c.279C>G
    + c.=
- r.279c>g p.Phe93Leu DNAJB6_00001 not in 404 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA, RNA RT-PCR, SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 2-generation family, affected father/son Finland - - isolated (sporadic) - - 1 3x -
+/? 5 c.279C>G
    + c.=
- r.279c>g p.Phe93Leu DNAJB6_00001 not in 404 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA, RNA RT-PCR, SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 2-generation family, affected mother/son Finland - - isolated (sporadic) - - 2 normal - 8x -
+/? 5 c.279C>G
    + c.=
- r.279c>g p.Phe93Leu DNAJB6_00001 not in 404 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA, RNA RT-PCR, SEQ - - dystrophy, muscular, limb-girdle, type 1D (LGMD-1D) muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure Sandell 2010, Hackman 2011, JdD 2-generation family, affected mother/son Finland - - isolated (sporadic) - - 1 normal -
+/? 5 c.279C>G - r.279c>g p.Phe93Leu DNAJB6_00001 mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b (not DNAJB6a), effect more severe when p.= coinjected - Sarparanta 2012 DNA, RNA SEQ - - in vitro - JdD - - - - - - - 1 - -
-/? 5 c.279C>G - r.279c>g p.Phe93Leu DNAJB6_00001 COS-1 cell expression co-IP, no effect on oligomerisation - Sarparanta 2012 DNA, RNA SEQ - - in vitro - JdD - - - - - - - 1 - -
+/? 5 c.279C>G - r.279c>g p.Phe93Leu DNAJB6_00001 293FT cell expression increased DNAJB6 half-life (increased effect p.= co-expressed) - Sarparanta 2012 DNA, RNA SEQ - - in vitro - JdD - - - - - - - 1 - -
+/? 5 c.279C>G - r.279c>g p.Phe93Leu DNAJB6_00001 expression cloning with pEGFP/HD-120Q significantly impaired anti-aggregation function - Sarparanta 2012 DNA, RNA SEQ - - in vitro - JdD - - - - - - - 1 - -
-/? 5 c.279C>G - r.279c>g p.Phe93Leu DNAJB6_00001 COS-1 cell expression, no effect on BAG3, HSPB8 and STUB1 co-IP - Sarparanta 2012 DNA, RNA SEQ - - in vitro - JdD - - - - - - - 1 - -
+/? 5 c.287C>G
    + c.=
- r.(?) p.(Pro96Arg) DNAJB6_00005 segregates; not in 1081 African-America control exomes germline (inherited) Harms 2012 DNA SEQ, SEQ-NG-I - - myopathy distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness; 62y-motorized wheelchair JdD Fam2; 4-generation family, 9 affecteds, PatIII1 United States African American F familial, autosomal dominant - - 1 - -
+/? 5 c.287C>G
    + c.=
- r.(?) p.(Pro96Arg) DNAJB6_00005 segregates; not in 1081 African-America control exomes germline (inherited) Harms 2012 DNA SEQ, SEQ-NG-I - - myopathy distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness ; NCS small CMAPs, normal SNAPs; EMG fibs, PSW with narrow, short-amplitude MUP and early recruitment JdD Fam2; 4-generation family, 9 affecteds, PatIII5 United States African American M familial, autosomal dominant - - 1 278 -
+/? 5 c.287C>G
    + c.=
- r.(?) p.(Pro96Arg) DNAJB6_00005 segregates; not in 1081 African-America control exomes germline (inherited) Harms 2012 DNA SEQ, SEQ-NG-I - - myopathy diffuse lower extremity weakness, severe distal/moderate proximal upper extremity weakness; NCS small CMAPs, normal SNAPs; EMG fibs and PSW with narrow, short-amplitude MUP and early recruitment JdD Fam2; 4-generation family, 9 affecteds, PatIII6 United States African American M familial, autosomal dominant - - 1 339 -
1 - 50

NOTE: the information displayed is only part of the data present in the databases, e.g. the database contains much more phenotype data. In addition some records might still be under review, such non-public variants CAN be found querying the "DNA_change" field. Most other non-public data can be queried as well, returning the number of records fulfilling the search criteria (without showing the actual records). For more information, please contact the curator(s).

Legend: [ DNAJB6 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant affecting function (pathogenicity), in the format Reported/Concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown. Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change DNAJB6 DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site Phenotype: phenotype of the individual Phenotype additional: detailed phenotypic features of the individual Reference: publication describing the phenotype of the patient Remarks: Remarks Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # reported: Number of times this case has been reported CK level: CK level Protein data: Protein data