Variant position: 123 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 472 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 GFAG--GDGLLVGSEKVTMQNL NDRLASYLDKVRALEEANADL
Mouse GLGGGIGDGLLVGSEKVTMQNL NDRLATYLDKVRALEEANT
Rat GFGGGLGDGLLVGSEKVTMQNL NDRLATYLDKVRALEEANS
Chicken GFGG--GDGILPAGEKETMQNL NDRLAAYLDKVRALEEANT
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 novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Soerensen C.B.; Ladekjaer-Mikkelsen A.-S.; Andresen B.S.; Brandrup F.; Veien N.K.; Buus S.K.; Anton-Lamprecht I.; Kruse T.A.; Jensen P.K.A.; Eiberg H.; Bolund L.; Gregersen N.;
J. Invest. Dermatol. 112:184-190(1999)
Cited for: VARIANT WC-EBS ASN-116; VARIANT DM-EBS SER-123; VARIANT K-EBS PRO-143; VARIANT THR-94; SEQUENCE REVISION TO 25 AND 43;
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.