Sequence information
Variant position: 138 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 590 The length of the canonical sequence.
Location on the sequence:
GGGAGFGGGFGGPGFPVCPP
G GIQEVTVNQSLLTPLNLQID
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 GGGAGFGGG--FGGPGFPVCPPG GIQEVTVNQSLLTPLNLQID
Chimpanzee GGGAGFGGG--YGGPGFPVCPPG GIQEVTVNQSLLTPLNLQ
Mouse GGGAGFGGG--YGGAGFPVCPPG GIQEVTVNQNLLTPLNLQ
Rat GGGAGFGGG--YGGAGFPVCPPG GIQEVTVNQNLLTPLNLQ
Bovine GGGAGFGGG--FGGPGFPVCPPG GIQEVTVNQSLLTPLNLQ
Xenopus laevis -GGSGFGGGVAYSGP-------- GIQEVTINQSLLSPLNLE
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
Chain
1 – 590
Keratin, type II cytoskeletal 5
Region
1 – 167
Head
Compositional bias
39 – 139
Gly-rich
Literature citations
Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12.
Wanner R.; Foerster H.-H.; Tilmans I.; Mischke D.;
J. Invest. Dermatol. 100:735-741(1993)
Cited for: VARIANT GLU-138;
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.