Variant position: 1155 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1960 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RDLGEELEALKTELEDTLDS TAAQQELRSKREQEVNILKKT
Mouse RDLGEELEALKTELEDTLDS TAAQQELRSKREQEVSILKKT
Rat RDLGEELEALKTELEDTLDS TAAQQELRSKREQEVSILKKT
Chicken RDLGEELEALKTELEDTLDS TAAQQELRSKREQEVTVLKKT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.
Kelley M.J.; Jawien W.; Ortel T.L.; Korczak J.F.;
Nat. Genet. 26:106-108(2000)
Cited for: VARIANTS MHA ILE-1155 AND LYS-1841;
MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M.; Pecci A.; Di Bari F.; Cusano R.; Savino M.; Panza E.; Nigro A.; Noris P.; Gangarossa S.; Rocca B.; Gresele P.; Bizzaro N.; Malatesta P.; Koivisto P.A.; Longo I.; Musso R.; Pecoraro C.; Iolascon A.; Magrini U.; Rodriguez Soriano J.; Renieri A.; Ghiggeri G.M.; Ravazzolo R.; Balduini C.L.; Savoia A.;
Medicine (Baltimore) 82:203-215(2003)
Cited for: VARIANT EPSTNS HIS-702; VARIANTS FTNS GLN-910; ILE-1155 AND HIS-1424; VARIANTS MHA/SBS 1066-GLU--ALA-1072 DEL AND ASN-1424; VARIANT EPSTNS/FTNS/MHA/SBS CYS-702;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.