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1 protein found in SwissVar (200 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.Arg143Gln
p.Arg143Trp
p.Arg143Gly
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.Arg243His
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.Arg403Leu
p.Arg403Gln
p.Arg403Trp
p.Val404Met
p.Val404Leu
p.Val406Met
p.Gly407Val
p.Val411Ile
p.Gly425Arg
p.Ala428Val
p.Ala430Glu
p.Met435Thr
p.Val440Met
p.Ile443Thr
p.Lys450Glu
p.Lys450Thr
p.Arg453Ser
p.Arg453His
p.Arg453Cys
p.Asn479Ser
p.Glu483Lys
p.Glu497Asp
p.Glu499Lys
p.Glu500Ala
p.Tyr501Cys
p.Ile511Phe
p.Ile511Thr
p.Phe513Cys
p.Met515Val
p.Met515Arg
p.Leu517Met
p.Gly571Arg
p.His576Arg
p.Gly584Ser
p.Gly584Arg
p.Asp587Val
p.Gln595Arg
p.Leu601Val
p.Asn602Ser
p.Val606Met
p.Lys615Gln
p.Lys615Asn
p.Met659Ile
p.Arg663Ser
p.Arg663Cys
p.Arg663His
p.Arg671Cys
p.Arg694His
p.Arg694Cys
p.Asn696Ser
p.Val698Ala
p.Arg712Leu
p.Gly716Arg
p.Arg719Trp
p.Arg719Gln
p.Arg723Gly
p.Arg723Cys
p.Ala728Val
p.Pro731Leu
p.Gly733Glu
p.Gln734Pro
p.Gln734Glu
p.Ile736Thr
p.Ile736Met
p.Gly741Arg
p.Gly741Trp
p.Ala742Glu
p.Glu743Asp
p.Val763Met
p.Val763Gly
p.Gly768Arg
p.Glu774Val
p.Asp778Val
p.Asp778Glu
p.Asp778Gly
p.Ser782Asn
p.Arg787Cys
p.Arg787His
p.Leu796Phe
p.Ala797Thr
p.Met822Thr
p.Met822Leu
p.Gly823Glu
p.Val824Ile
p.Glu846Gln
p.Met852Thr
p.Arg858His
p.Arg858Cys
p.Arg869His
p.Arg869Cys
p.Arg869Gly
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.Glu1752Lys
p.Glu1753Lys
p.Glu1768Lys
p.Ser1776Gly
p.Ala1777Thr
p.Thr1854Met
p.Glu1883Lys
p.Thr1929Met











































































































































































P12883 MYH7_HUMAN myopathy, myosin storage, autosomal dominant p.Leu1793Pro
p.Arg1845Trp
p.His1901Leu



P12883 MYH7_HUMAN scapuloperoneal myopathy myh7-related p.Arg1845Trp

P12883 MYH7_HUMAN cardiomyopathy, dilated 1s p.Ile201Thr
p.Ala223Thr
p.Arg243His
p.Tyr283Asp
p.Tyr350Asn
p.Leu390Pro
p.Thr412Asn
p.Ser532Pro
p.Ala550Val
p.Ser642Leu
p.Phe764Leu
p.Thr1019Asn
p.Val1044Ala
p.Arg1193Ser
p.Ala1263Glu
p.Leu1297Val
p.Arg1359Cys
p.Glu1426Lys
p.Lys1459Asn
p.Glu1573Lys
p.Arg1634Cys
p.Ser1776Thr
p.Asn1918Lys























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




P12883 MYH7_HUMAN myopathy, myosin storage, autosomal recessive p.Arg1820Trp