Variant position: 837 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1243 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 VRTRLYFTSESHVHSLLSIL RYGALCNESKDEQWKRAMDYL
Mouse VRTRLYFTSESHVHSLLSIL RYGALCDDSKDEQWKRAMDYL
Xenopus laevis VRTRLYFTSESHVHSLLSIL RFGALCDETKDEQWKRAMDYL
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
1 – 1243 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
Yousaf R.; Gu C.; Ahmed Z.M.; Khan S.N.; Friedman T.B.; Riazuddin S.; Shears S.B.; Riazuddin S.;
PLoS Genet. 14:E1007297-E1007297(2018)
Cited for: INVOLVEMENT IN DFNB100; VARIANT DFNB100 HIS-837; CHARACTERIZATION OF VARIANT DFNB100 HIS-837; FUNCTION; CATALYTIC ACTIVITY;
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.