Variant position: 1165 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 KTELEDTLDSTAAQQELRSK REQEVNILKKTLEEEAKTHEA
Mouse KTELEDTLDSTAAQQELRSK REQEVSILKKTLEDEAKTHEA
Rat KTELEDTLDSTAAQQELRSK REQEVSILKKTLEDEAKTHEA
Chicken KTELEDTLDSTAAQQELRSK REQEVTVLKKTLEDEAKTHEA
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.
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
Kunishima S.; Matsushita T.; Kojima T.; Amemiya N.; Choi Y.M.; Hosaka N.; Inoue M.; Jung Y.; Mamiya S.; Matsumoto K.; Miyajima Y.; Zhang G.; Ruan C.; Saito K.; Song K.S.; Yoon H.-J.; Kamiya T.; Saito H.;
J. Hum. Genet. 46:722-729(2001)
Cited for: VARIANTS MATINS THR-95; CYS-1165; LEU-1165; 1205-LEU--GLN-1207 DEL; HIS-1424; ASN-1424; TYR-1424 AND LYS-1841; VARIANT VAL-1626;
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
Arrondel C.; Vodovar N.; Knebelmann B.; Gruenfeld J.-P.; Gubler M.-C.; Antignac C.; Heidet L.;
J. Am. Soc. Nephrol. 13:65-74(2002)
Cited for: VARIANTS MATINS LEU-96; LEU-1165; TRP-1400; ASN-1424 AND LYS-1841; TISSUE SPECIFICITY;
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
Kunishima S.; Matsushita T.; Kojima T.; Sako M.; Kimura F.; Jo E.-K.; Inoue C.; Kamiya T.; Saito H.;
Lab. Invest. 83:115-122(2003)
Cited for: VARIANTS MATINS CYS-1165; LEU-1165; 1205-LEU--GLN-1207 DEL; HIS-1424; ASN-1424; TYR-1424; VAL-1816 AND LYS-1841;
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