Variant position: 127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 473 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 AG--GDGLLVGSEKVTMQNLND RLASYLDKVRALEEANADLEV
Mouse GGGIGDGLLVGSEKVTMQNLND RLATYLDKVRALEEANRDL
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.
Novel mutations in keratin 16 gene underly focal nonepidermolytic palmoplantar keratoderma (NEPPK) in two families.
Shamsheer M.K.; Navsaria H.A.; Stevens H.P.; Ratnavel R.C.; Purkis P.E.; McLean W.H.I.; Cook L.J.; Griffiths W.A.D.; Geschmeissner S.; Spurr N.; Leigh I.M.;
Hum. Mol. Genet. 4:1875-1881(1995)
Cited for: VARIANTS FNEPPK1 SER-125 AND CYS-127;
The genetic basis of pachyonychia congenita.
Smith F.J.; Liao H.; Cassidy A.J.; Stewart A.; Hamill K.J.; Wood P.; Joval I.; van Steensel M.A.; Bjoerck E.; Callif-Daley F.; Pals G.; Collins P.; Leachman S.A.; Munro C.S.; McLean W.H.;
J. Investig. Dermatol. Symp. Proc. 10:21-30(2005)
Cited for: VARIANTS PC1 PRO-124; HIS-124; ASP-125; SER-125; CYS-127 AND PRO-132;
Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
Fu T.; Leachman S.A.; Wilson N.J.; Smith F.J.; Schwartz M.E.; Tang J.Y.;
J. Invest. Dermatol. 131:1025-1028(2011)
Cited for: VARIANTS PC1 SER-125; ASP-125; PRO-127 AND CYS-127;
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.