View unique variants - Leiden Muscular Dystrophy pages

About this overview [Show]

The variants below are all in the MYOT database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
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 MYOT full legend here.

23 entries
entries per page

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Reference

Template

Technique

Frequency

RE-site


1	c.-251A>G	-	r.(?)	p.(=)	MYOT_00015	-	germline (inherited)	Godley 1999	DNA	SEQ, SSCA	-	-
1	c.-124T>G	-	r.(?)	p.(=)	MYOT_00004	sequence comparison	germline (inherited)	-	DNA	SEQ	6/50	-
1_10	c.= (Reported 48 times)	-	r.(=)	p.(=)	MYOT_00000	-	germline (inherited)	-	DNA	SEQ	-	-
2	c.106A>G (Reported 2 times)	-	r.(?)	p.(Lys36Glu)	MYOT_00012	control chromosomes	germline (inherited)	Olive 2005	DNA	SEQ	-	-
2	c.116C>T (Reported 3 times)	-	r.(?)	p.(Ser39Phe)	MYOT_00011	control chromosomes	germline (inherited)	Foroud 2005, (OMIM 0006)	DNA	SEQ	-	BbsI-
2	c.149A>G	-	r.(?)	p.(Gln50Arg)	MYOT_00010	-	germline (inherited)	Godley 1999	DNA	SEQ, SSCA	-	-
2	c.164C>T (Reported 14 times)	-	r.(?)	p.(Ser55Phe)	MYOT_00003	-	germline (inherited)	Hauser 2002, (OMIM 0002)	DNA	DHPLC	-	-
2	c.(170C>T)	450C>T	r.170c>u	p.Thr57Ile	MYOT_00000	transgenic mouse expressing MYOT under control human skeletal actin promoter; protein properly localizes to Z-disc	germline (inherited)	Garvey 2006	DNA, RNA	RT-PCR, SSCA, SEQ	-	-
2	c.170C>T (Reported 3 times)	450C>T	r.170c>u	p.Thr57Ile	MYOT_00001	not in control chromosomes (0/396 USA, 0/200 Finland, 0/60 Japan)	germline (inherited)	Hauser 2000, (OMIM 0001)	DNA, RNA	RT-PCR, SSCA, SEQ	-	-
2	c.179C>G (Reported 6 times)	459C>G	r.(?)	p.(Ser60Cys)	MYOT_00007	-	germline (inherited)	Selcen 2004, (OMIM 0003)	DNA	SEQ	-	-
2	c.179C>T (Reported 17 times)	459C>T	r.(?)	p.(Ser60Phe)	MYOT_00008	-	germline (inherited)	Selcen 2004, (OMIM 0004)	DNA	SEQ	-	-
2	c.220C>A (Reported 7 times)	-	r.(?)	p.(Gln74Lys)	MYOT_00013	-	germline (inherited)	Olive 2005	DNA	SEQ	-	-
2	c.284G>T	564G>T	r.(?)	p.(Ser95Ile)	MYOT_00009	-	germline (inherited)	Selcen 2004, (OMIM 0005)	DNA	SEQ	-	-
2	c.323A>C	-	r.(?)	p.(Asn108Thr)	MYOT_00018	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
2	c.343G>A (Reported 2 times)	-	r.(?)	p.(Ala115Thr)	MYOT_00014	-	germline (inherited)	Olive 2005	DNA	SEQ	-	-
3	c.445G>C	-	r.(?)	p.(Glu149Gln)	MYOT_00019	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
3	c.482T>G	-	r.(?)	p.(Leu161Trp)	MYOT_00005	sequence comparison	germline (inherited)	-	DNA	SEQ	6/31	-
4	c.617G>A	-	r.(?)	p.(Gly206Asp)	MYOT_00020	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
7	c.1008G>T	-	r.(?)	p.(=)	MYOT_00021	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
9	c.1214G>A (Reported 5 times)	-	r.(?)	p.(Arg405Lys)	MYOT_00016	not in 200 control chromosomes	germline (inherited)	Shalaby 2009	DNA	SEQ	-	-
9i	c.1325-47T>C	-	r.(=)	p.(=)	MYOT_00006	-	germline (inherited)	dbSNP-rs3764812	DNA	SEQ	0.01	-
10	c.1413G>T	-	r.(?)	p.(Leu471Phe)	MYOT_00017	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
10	c.*98G>A (Reported 2 times)	-	r.*98g>a	p.(=)	MYOT_00002	-	germline (inherited)	Godley 1999	RNA+DNA	RT-PCR, SEQ, SSCA	7/54	-

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Legend: [ MYOT 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.
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 MYOT 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

Leiden Muscular Dystrophy pages

Myotilin (Titin immunoglobulin domain) (MYOT)