Variant position: 271 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 529 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 ADAAYAVKVELQAKVDSLDK EIKFLKCLYDAEIAQIQTHAS
Mouse ADAAYTVKVELQDKVDSLDK DIKFLKCLYDEEISQLQTHAS
Bovine ADAAYTVKVELQAKVDSLDK DIKFLKCLYDAEVAQIQTHTS
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.
K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle.
Langbein L.; Rogers M.A.; Praetzel S.; Winter H.; Schweizer J.;
J. Invest. Dermatol. 120:512-522(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANT ASP-271;
Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18.
Hesse M.; Magin T.M.; Weber K.;
J. Cell Sci. 114:2569-2575(2001)
Cited for: IDENTIFICATION; VARIANT ASP-271;
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.