Variant position: 1424 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 KVAAYDKLEKTKTRLQQELD DLLVDLDHQRQSACNLEKKQK
Mouse KVAAYDKLEKTKTRLQQELD DLLVDLDHQRQSVSNLEKKQK
Rat KVAAYDKLEKTKTRLQQELD DLLVDLDHQRQSVSNLEKKQK
Chicken KIAAYDKLEKTKTRLQQELD DIAVDLDHQRQTVSNLEKKQK
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 MHA/FTNS/SBS THR-95; CYS-1165; LEU-1165; 1205-LEU--GLN-1207 DEL; HIS-1424; ASN-1424; TYR-1424 AND LYS-1841; VARIANT VAL-1626;
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: VARIANT FTNS/SBS CYS-1165; VARIANTS SBS LEU-1165 AND 1205-LEU--GLN-1207 DEL; VARIANTS MHA HIS-1424; ASN-1424; TYR-1424 AND LYS-1841; VARIANT EPS VAL-1816; VARIANT FTNS/MHA LYS-1841;
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.