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UniProtKB/Swiss-Prot P08779: Variant p.Asn125Ser

Keratin, type I cytoskeletal 16
Gene: KRT16
Variant information

Variant position:  125
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Asparagine (N) to Serine (S) at position 125 (N125S, p.Asn125Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (N) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In FNEPPK1 and PC1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  125
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:   GFAGGDGLLVGSEKVTMQNL  N DRLASYLDKVRALEEANADL
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--GDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADL

Mouse                         GLGGGIGDGLLVGSEKVTMQNLNDRLATYLDKVRALEEANR

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.

TypePositionsDescription
Chain 1 – 473 Keratin, type I cytoskeletal 16
Domain 117 – 428 IF rod
Region 117 – 152 Coil 1A


Literature citations

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;

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.
Liao H.; Sayers J.M.; Wilson N.J.; Irvine A.D.; Mellerio J.E.; Baselga E.; Bayliss S.J.; Uliana V.; Fimiani M.; Lane E.B.; McLean W.H.; Leachman S.A.; Smith F.J.;
J. Dermatol. Sci. 48:199-205(2007)
Cited for: VARIANTS PC1 SER-125; PRO-127 AND GLN-128;

A large mutational study in pachyonychia congenita.
Wilson N.J.; Leachman S.A.; Hansen C.D.; McMullan A.C.; Milstone L.M.; Schwartz M.E.; McLean W.H.; Hull P.R.; Smith F.J.;
J. Invest. Dermatol. 131:1018-1024(2011)
Cited for: VARIANTS PC1 SER-125; PRO-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;

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.