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The variants below are all in the PLEC database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than PLEC, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the PLEC full legend here.

55 public entries
entries per page

Path.

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Reference

Template

Technique

Frequency

RE-site

Phenotype

Phenotype additional

Reference

Remarks

Geographic origin

Ethnic origin

Gender

Inheritance

Consanguinity

Fam_Pat

# reported

CK level

Protein data


+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	progressive muscle weakness, deceased	JdD	6-generation family, 4 affecteds	Turkey	-	F	isolated (sporadic)	-	-	2	-	-
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	progressive muscle weakness, deceased	JdD	6-generation family, 4 affecteds	Turkey	-	F	isolated (sporadic)	-	-	2	-	-
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	progressive muscle weakness, deceased	JdD	6-generation family, 4 affecteds	Turkey	-	F	isolated (sporadic)	-	-	2	-	-
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	progressive muscle weakness, deceased	JdD	6-generation family, 4 affecteds	Turkey	-	F	isolated (sporadic)	-	-	2	-	-
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	early-onset limb-girdle muscle symptoms; 36y-bedridden, near-total muscle atrophy, evident multiple contractures	JdD	6-generation family, 4 affecteds	Turkey	-	M	isolated (sporadic)	-	-	2	-	-
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	early-onset limb-girdle muscle symptoms; 36y-bedridden, near-total muscle atrophy, evident multiple contractures	JdD	6-generation family, 4 affecteds	Turkey	-	M	isolated (sporadic)	-	-	2	-	-
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype; muscle RNA <0.01	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	3y-delayed independent walking, later additional signs of weakness (occasional falls, difficulty climbing stairs); 14y-progressive weakness; 19y-prolonged Gower's sign, generalized muscle weakness, unable to jump, walked with increased lumbar lordosis, no muscle hypertrophy, ECG normal, EMG myopathic; muscle biopsy dystrophic features (variation fiber size, internal nuclei, scattered basophilic/few necrotic fibers, mild endomysial fibrosis	JdD	6-generation family, 4 affecteds	Turkey	-	M	isolated (sporadic)	-	-	2	5584	IHC PLEC strong sarcoplasmic, no sarcolemmal staining; IHC LAMA2, DMD, SGCA/B/G/D, DAG normal
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype; muscle RNA <0.01	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	3y-delayed independent walking, later additional signs of weakness (occasional falls, difficulty climbing stairs); 14y-progressive weakness; 19y-prolonged Gower's sign, generalized muscle weakness, unable to jump, walked with increased lumbar lordosis, no muscle hypertrophy, ECG normal, EMG myopathic; muscle biopsy dystrophic features (variation fiber size, internal nuclei, scattered basophilic/few necrotic fibers, mild endomysial fibrosis	JdD	6-generation family, 4 affecteds	Turkey	-	M	isolated (sporadic)	-	-	2	5584	IHC PLEC strong sarcoplasmic, no sarcolemmal staining; IHC LAMA2, DMD, SGCA/B/G/D, DAG normal
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	4y-lordotic gait, Gower's sign, normal mental/fine-motor developmental milestones, muscle biopsy dystrophic changes	JdD	paternal aunt with LGMD	Turkey	-	M	isolated (sporadic)	-	-	2	4159	IHC LAMA2, DMD, SGCA/B/G/D normal
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	4y-lordotic gait, Gower's sign, normal mental/fine-motor developmental milestones, muscle biopsy dystrophic changes	JdD	paternal aunt with LGMD	Turkey	-	M	isolated (sporadic)	-	-	2	4159	IHC LAMA2, DMD, SGCA/B/G/D normal
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	5y-weakness early childhood, difficulty climbing stairs, behind peers in running, Gower's sign, muslce not hypertrophic, muscle biopsy dystrophic changes	JdD	consanguineous parents, 2nd cousins,	Turkey	-	M	isolated (sporadic)	yes	-	2	3704	IHC LAMA2, DMD, SGCA/B/G/D normal
+/?	2i	c.193+1705_193+1713del + c.193+1705_193+1713del	1_9del	r.(?)	PLEC1f:p.0?	PLEC_00001	not in 342 control chromosomes; founder haplotype	germline (inherited)	Gundesli 2010	DNA	SEQ	-	-	LGMD-2	5y-weakness early childhood, difficulty climbing stairs, behind peers in running, Gower's sign, muslce not hypertrophic, muscle biopsy dystrophic changes	JdD	consanguineous parents, 2nd cousins,	Turkey	-	M	isolated (sporadic)	yes	-	2	3704	IHC LAMA2, DMD, SGCA/B/G/D normal
-/?	3i	c.255+22G>C	-	r.(?)	p.(=)	PLEC_00002	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	6	c.459T>C	-	r.(?)	p.(=)	PLEC_00003	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	10i	c.1027-33C>G	1026+47C>G	r.(?)	p.(=)	PLEC_00004	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	10i	c.1027-33C>G	-	r.(?)	p.(=)	PLEC_00004	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	12	c.1176T>C	-	r.(?)	p.(=)	PLEC_00005	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	12i	c.1250+43T>A	-	r.(?)	p.(=)	PLEC_00006	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	13i	c.1345-15G>A	-	r.(?)	p.(=)	PLEC_00007	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	15	c.1592C>T	-	r.(?)	p.(Ala531Val)	PLEC_00008	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	16i	c.1896+13A>G	-	r.(?)	p.(=)	PLEC_00009	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	20i	c.2385+13dupG	-	r.(?)	p.(=)	PLEC_00010	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	21i	c.2538+6C>T	-	r.(?)	p.(=)	PLEC_00011	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	24i	c.3004+37C>T	-	r.(?)	p.(=)	PLEC_00012	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	28	c.3631T>C	-	r.(?)	p.(=)	PLEC_00013	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	28	c.3827G>A	-	r.(?)	p.(Arg1276Gln)	PLEC_00014	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	28i	c.3838-6A>G	-	r.(?)	p.(=)	PLEC_00015	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	31	c.4046A>G	-	r.(?)	p.(His1349Arg)	PLEC_00016	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	31i	c.4126-4A>G	-	r.(spl?)	p.(?)	PLEC_00017	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32	c.4494T>C	-	r.(?)	p.(=)	PLEC_00018	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32	c.4536T>G	-	r.(?)	p.(=)	PLEC_00019	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32	c.4557G>A	-	r.(?)	p.(=)	PLEC_00020	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32	c.4761G>A	-	r.(?)	p.(=)	PLEC_00021	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
?/?	32	c.5310G>A	-	r.(?)	p.(=)	PLEC_00022	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32	c.5988T>C	-	r.(?)	p.(=)	PLEC_00023	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32	c.6009G>A	-	r.(?)	p.(=)	PLEC_00024	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32	c.6251C>T	-	r.(?)	p.(Ala2084Val)	PLEC_00025	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32	c.6522G>A	-	r.(?)	p.(=)	PLEC_00026	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32i	c.7506+37C>T	-	r.(?)	p.(=)	PLEC_00027	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	32i	c.7507-35C>T	-	r.(?)	p.(=)	PLEC_00028	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.7662A>C	-	r.(?)	p.(=)	PLEC_00029	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.8041T>C	-	r.(?)	p.(Ser2681Pro)	PLEC_00030	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.8073G>A	-	r.(?)	p.(=)	PLEC_00031	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.8334C>T	-	r.(?)	p.(=)	PLEC_00032	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.8576G>A	-	r.(?)	p.(Arg2859His)	PLEC_00033	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.9154G>A	-	r.(?)	p.(Val3052Ile)	PLEC_00034	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.9858T>A	-	r.(?)	p.(=)	PLEC_00035	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.10693T>C	-	r.(?)	p.(=)	PLEC_00036	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.10746G>A	-	r.(?)	p.(=)	PLEC_00037	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.11208T>C	-	r.(?)	p.(=)	PLEC_00038	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.11709A>G	-	r.(?)	p.(=)	PLEC_00039	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.11967A>G	-	r.(?)	p.(=)	PLEC_00040	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.12894A>G	-	r.(?)	p.(=)	PLEC_00041	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.13542T>C	-	r.(?)	p.(=)	PLEC_00042	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-
-/?	33	c.*10C>T	-	r.(?)	p.(=)	PLEC_00043	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-	?	-	United States:Emory Lab	-	(United States)	-	-	unknown	-	-	1	-	-

1 - 55

Legend: [ PLEC 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 PLEC 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

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Plectin (PLEC)