Variant position: 93 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 QKMNPPKFSKVEDMAELTCL NEASVLHNLKERYYSGLIYTY
Mouse QKMNPPKFSKVEDMAELTCL NEASVLHNLKERYYSGLIYTY
Rat QKMNPPKFSKVEDMAELTCL NEASVLHNLKERYYSGLIYTY
Chicken QKMNPPKFSKVEDMAELTCL NEASVLHNLKERYYSGLIYTY
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.
Type Positions Description
2 – 1960 Myosin-9
81 – 776 Myosin motor
2 – 838 Mediates interaction with LIMCH1
102 – 102 N6-acetyllysine
1 – 136 Missing. In isoform 2.
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes.
Seri M.; Cusano M.; Gangarossa S.; Caridi G.; Bordo D.; Lo Nigro C.; Ghiggeri G.M.; Ravazzolo R.; Savino M.; Del Vecchio M.; d'Apolito M.; Iolascon A.; Zelante L.L.; Savoia A.; Balduini C.L.; Noris P.; Magrini U.; Belletti S.; Heath K.E.; Babcock M.; Glucksman M.J.; Aliprandis E.; Bizzaro N.; Desnick R.J.; Martignetti J.A.;
Nat. Genet. 26:103-105(2000)
Cited for: VARIANTS MATINS LYS-93; CYS-702; CYS-1165; HIS-1424 AND LYS-1841;
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