Sequence information
Variant position: 705 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:
PHLVLDQLRCNGVLEGIRIC
R QGFPNRVVFQEFRQRYEILT
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 PHLVLDQLRCNGVLEGIRICR QGFPNRVVFQEFRQRYEILT
PHLVLDQLRCNGVLEGIRICR QGFPNRVVFQEFRQRYEILT
Mouse PHLVLDQLRCNGVLEGIRICR QGFPNRVVFQEFRQRYEILT
Rat PHLVLDQLRCNGVLEGIRICR QGFPNRVVFQEFRQRYEILT
Chicken PHLVLDQLRCNGVLEGIRICR QGFPNRVVFQEFRQRYEILT
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.
Literature citations
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.
Lalwani A.K.; Goldstein J.A.; Kelley M.J.; Luxford W.; Castelein C.M.; Mhatre A.N.;
Am. J. Hum. Genet. 67:1121-1128(2000)
Cited for: VARIANT DFNA17 HIS-705;
Disclaimer:
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.