SWISSVAR
Due to maintenance work, this service may be impaired on Sunday February 1st between 12.00 pm and 06.00 pm CEST.

1 protein found in SwissVar (187 variants)

with gene/protein name P12883

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P12883 MYH7_HUMAN cardiomyopathy, familial hypertrophic 1 p.Ala26Val
p.Val39Met
p.Val59Ile
p.Tyr115His
p.Thr124Ile
p.Arg143Gly
p.Arg143Trp
p.Arg143Gln
p.Lys146Asn
p.Ser148Ile
p.Tyr162Cys
p.Val186Leu
p.Asn187Lys
p.Thr188Asn
p.Arg190Thr
p.Ala196Thr
p.Arg204His
p.Lys207Gln
p.Pro211Leu
p.Gln222Lys
p.Leu227Val
p.Asn232Ser
p.Phe244Leu
p.Arg249Gln
p.Gly256Glu
p.Ile263Met
p.Ile263Thr
p.Phe312Cys
p.Val320Met
p.Glu328Gly
p.Met349Thr
p.Lys351Glu
p.Ala355Thr
p.Lys383Asn
p.Ala385Val
p.Leu390Val
p.Arg403Trp
p.Arg403Leu
p.Arg403Gln
p.Val404Met
p.Val404Leu
p.Val406Met
p.Gly407Val
p.Val411Ile
p.Gly425Arg
p.Ala428Val
p.Ala430Glu
p.Met435Thr
p.Val440Met
p.Ile443Thr
p.Lys450Thr
p.Lys450Glu
p.Arg453Cys
p.Arg453His
p.Asn479Ser
p.Glu483Lys
p.Glu499Lys
p.Glu500Ala
p.Tyr501Cys
p.Ile511Phe
p.Ile511Thr
p.Phe513Cys
p.Met515Arg
p.Met515Val
p.Leu517Met
p.Gly571Arg
p.His576Arg
p.Gly584Arg
p.Gly584Ser
p.Asp587Val
p.Gln595Arg
p.Leu601Val
p.Asn602Ser
p.Val606Met
p.Lys615Gln
p.Lys615Asn
p.Met659Ile
p.Arg663Ser
p.Arg663His
p.Arg663Cys
p.Arg671Cys
p.Arg694Cys
p.Arg694His
p.Asn696Ser
p.Val698Ala
p.Arg712Leu
p.Gly716Arg
p.Arg719Trp
p.Arg719Gln
p.Arg723Cys
p.Arg723Gly
p.Ala728Val
p.Pro731Leu
p.Gly733Glu
p.Gln734Glu
p.Gln734Pro
p.Ile736Met
p.Ile736Thr
p.Gly741Trp
p.Gly741Arg
p.Ala742Glu
p.Glu743Asp
p.Val763Met
p.Val763Gly
p.Gly768Arg
p.Glu774Val
p.Asp778Glu
p.Asp778Gly
p.Asp778Val
p.Ser782Asn
p.Arg787His
p.Arg787Cys
p.Leu796Phe
p.Ala797Thr
p.Met822Thr
p.Met822Leu
p.Gly823Glu
p.Val824Ile
p.Glu846Gln
p.Met852Thr
p.Arg858His
p.Arg858Cys
p.Arg869Cys
p.Arg869Gly
p.Arg869His
p.Arg870His
p.Arg870Cys
p.Met877Lys
p.Gln882Glu
p.Glu894Gly
p.Ala901Gly
p.Cys905Phe
p.Asp906Gly
p.Leu908Val
p.Glu921Lys
p.Glu924Lys
p.Glu924Gln
p.Glu927Lys
p.Asp928Asn
p.Glu930Lys
p.Glu931Lys
p.Glu935Lys
p.Glu949Lys
p.Asp953His
p.Gly1057Ser
p.Gly1057Asp
p.Leu1135Arg
p.Glu1218Gln
p.Asn1327Lys
p.Glu1356Lys
p.Thr1377Met
p.Ala1379Thr
p.Arg1382Trp
p.Leu1414Met
p.Arg1420Trp
p.Ala1454Thr
p.Lys1459Asn
p.Thr1513Ser
p.Glu1555Lys
p.Arg1712Trp
p.Glu1753Lys
p.Glu1768Lys
p.Ser1776Gly
p.Ala1777Thr
p.Thr1854Met
p.Glu1883Lys
p.Thr1929Met







































































































































































P12883 MYH7_HUMAN myopathy, myosin storage p.Arg1845Trp
p.His1901Leu


P12883 MYH7_HUMAN scapuloperoneal myopathy myh7-related p.Arg1845Trp

P12883 MYH7_HUMAN cardiomyopathy, dilated 1s p.Ile201Thr
p.Ala223Thr
p.Thr412Asn
p.Ser532Pro
p.Ala550Val
p.Ser642Leu
p.Phe764Leu
p.Thr1019Asn
p.Val1044Ala
p.Arg1193Ser
p.Ala1263Glu
p.Leu1297Val
p.Glu1426Lys
p.Arg1634Cys














P12883 MYH7_HUMAN myopathy, distal, 1 p.Thr441Met
p.Arg1500Pro
p.Ala1663Pro
p.Leu1706Pro