View unique variants - Leiden Muscular Dystrophy pages

About this overview [Show]

The variants below are all in the MSTN 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 MSTN full legend here.

27 entries
entries per page

Exon

Genet_ori

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Reference

Template

Technique

Frequency

RE-site


1	germline (inherited)	c.-762A>G (Reported 2 times)	-	r.(?)	p.(=)	MSTN_00019	-	Saunders 2006	DNA	SEQ	1/140	-
1	germline (inherited)	c.-335G>A	-335G>A	r.(?)	p.(=)	MSTN_00011	-	Saunders 2006	DNA	SEQ	2/152	-
1_3	germline (inherited)	c.= (Reported 6 times)	-	r.(=)	p.(=)	MSTN_00000	-	-	DNA	SEQ	-	-
1	germline (inherited)	c.163G>A (Reported 11 times)	-	r.(?)	p.(Ala55Thr)	MSTN_00001	-	Nishiyama 2007	DNA	SEQ	0/204	-
1	germline (inherited)	c.180C>T	-	r.(?)	p.(=)	MSTN_00006	-	Saunders 2006	DNA	SEQ	3/152	-
1	germline (inherited)	c.194G>A	-	r.(?)	p.(Arg65His)	MSTN_00007	-	Saunders 2006	DNA	SEQ	2/152	-
1	germline (inherited)	c.283G>C	-	r.(?)	p.(Asp95His)	MSTN_00008	-	Nishiyama 2007	DNA	SEQ	-	-
1	germline (inherited)	c.306C>T	-	r.(?)	p.(=)	MSTN_00009	-	Saunders 2006	DNA	SEQ	3/152	-
1	germline (inherited)	c.307G>A	-	r.(?)	p.(Asp103Asn)	MSTN_00010	-	Saunders 2006	DNA	SEQ	1/152	-
1i	germline (inherited)	c.373+5G>A (Reported 7 times)	IVS1+5G>A	r.(?)	p.Ser125Cysfs*3	MSTN_00013	-	(OMIM 0001), Schuelke 2004	DNA	SEQ	-	AccI-
1i	germline (inherited)	c.373+90delA (Reported 2 times)	-	r.(=)	p.(=)	MSTN_00014	-	Saunders 2006	DNA	SEQ	58/152	-
2	germline (inherited)	c.386T>G	2174T>G	r.(?)	p.(Met129Arg)	MSTN_00012	-	Saunders 2006	DNA	SEQ	3/152	-
2	germline (inherited)	c.458A>G (Reported 19 times)	-	r.(?)	p.(Lys153Arg)	MSTN_00002	-	Nishiyama 2007	DNA	SEQ	0/204	-
2	germline (inherited)	c.466C>A	-	r.(?)	p.(Leu156Ile)	MSTN_00004	-	Nishiyama 2007	DNA	SEQ	-	-
2	germline (inherited)	c.490G>A (Reported 4 times)	-	r.(?)	p.(Glu164Lys)	MSTN_00003	-	Nishiyama 2007	DNA	SEQ	-	-
2	germline (inherited)	c.554G>C	-	r.(?)	p.(Arg185Thr)	MSTN_00015	-	Corsi 2002	DNA	SEQ	1/80	-
2	germline (inherited)	c.592C>G (Reported 2 times)	-	r.(?)	p.(Pro198Ala)	MSTN_00016	-	Ferrell 1999	DNA	PCRdig, SEQ	1/80	BstNI
2	germline (inherited)	c.(669_680del) (Reported 2 times)	-	r.669_680del	p.(Gly224_Ile227del)	MSTN_00000	mouse KO by NEO insertion	Szabo 1998	DNA, RNA	RT-PCR, SEQ	-	-
2	germline (inherited)	c.674T>C	-	r.(?)	p.(Ile225Thr)	MSTN_00017	-	Ferrell 1999	DNA	SEQ	2/?	-
2i	germline (inherited)	c.747+8A>G (Reported 2 times)	-	r.(?)	p.(=)	MSTN_00018	-	Nishiyama 2007	DNA	SEQ	0/204	-
2i	germline (inherited)	c.(748-?_(*_?)delinsNEO) (Reported 2 times)	-	r.del	p.(0)	MSTN_00000	mouse KO by NEO insertion	McPherron 1997	DNA	Southern	-	-
3	germline (inherited)	c.(818_828del) (Reported 2 times)	-	r.(?)	p.(Glu274Argfs*14)	MSTN_00000	-	Grobet 1997	DNA	SEQ	-	-
3	germline (inherited)	c.(871G>T) (Reported 2 times)	-	r.(?)	p.(Glu291*)	MSTN_00000	-	Marchitelli 2003	DNA	SEQ	-	MseI+
3	germline (inherited)	c.(939_940del) (Reported 3 times)	-	r.(?)	p.(Cys313*)	MSTN_00000	-	Mosher 2007	DNA	SEQ	-	-
3	germline (inherited)	c.(1062T>C?)	5273T>C	r.(?)	p.(=)	MSTN_00000	-	Saunders 2006	DNA	SEQ	1/140	-
3	germline (inherited)	c.1136_1137del	c.2264-2265delAT	r.(?)	p.(=)	MSTN_00005	-	Nishiyama 2007	DNA	SEQ	1/204	-
3	germline (inherited)	c.(*1274G>A) (Reported 2 times)	2402G>A	r.(*1274g>a)	p.(0)	MSTN_00000	creates mir1/mir206 octamer target, reduced translation	Clop 2006	DNA	SEQ	-	-

1 - 27

Legend: [ MSTN 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 Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change MSTN DB-ID: DB-ID Variant remarks: Variant remarks Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site

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