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UniProtKB/Swiss-Prot P35908: Variant p.Glu487Lys

Keratin, type II cytoskeletal 2 epidermal
Gene: KRT2
Variant information

Variant position:  487
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 Glutamate (E) to Lysine (K) at position 487 (E487K, p.Glu487Lys).
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 acidic (E) to large size and basic (K)
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 IBS.
Any additional useful information about the variant.

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



Sequence information

Variant position:  487
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  639
The length of the canonical sequence.

Location on the sequence:   MNVKLALDVEIATYRKLLEG  E ECRMSGDLSSNVTVSVTSST
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                         MNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSST

                              MNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSSS

Mouse                         MNTKLSLDVEIATYRKLLEGEECRMSGDFSDNVSVSITSST

Rat                           MNVKLALDVEIATYRKLLEGEECRMSGDFSDNVSVSVTSST

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 – 639 Keratin, type II cytoskeletal 2 epidermal
Domain 178 – 491 IF rod
Region 349 – 487 Coil 2


Literature citations

Ichthyosis bullosa of Siemens -- a disease involving keratin 2e.
McLean W.H.I.; Morley S.M.; Lane E.B.; Eady R.A.J.; Griffiths W.A.D.; Paige D.G.; Harper J.I.; Higgins C.; Leigh I.M.;
J. Invest. Dermatol. 103:277-281(1994)
Cited for: VARIANT IBS LYS-487;

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.
Kremer H.; Zeeuwen P.; McLean W.H.I.; Mariman E.C.M.; Lane E.B.; van de Kerkhof P.C.M.; Ropers H.-H.; Steijlen P.M.;
J. Invest. Dermatol. 103:286-289(1994)
Cited for: VARIANTS IBS PRO-181; PRO-484 AND LYS-487;

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
Rothnagel J.A.; Traupe H.; Wojcik S.; Huber M.; Hohl D.; Pittelkow M.R.; Saeki H.; Ishibashi Y.; Roop D.R.;
Nat. Genet. 7:485-490(1994)
Cited for: VARIANTS IBS ASP-487 AND LYS-487;

A new keratin 2e mutation in ichthyosis bullosa of Siemens.
Jones D.O.; Watts C.; Mills C.; Sharpe G.; Marks R.; Bowden P.E.;
J. Invest. Dermatol. 108:354-356(1997)
Cited for: VARIANTS IBS LYS-487 AND LYS-488;

A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.
Yang J.-M.; Lee E.-S.; Kang H.-J.; Choi G.-S.; Yoneda K.; Jung S.-Y.; Park K.-B.; Steinert P.M.; Lee E.-S.;
Acta Derm. Venereol. 78:417-419(1998)
Cited for: VARIANT IBS LYS-487;

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
Basarab T.; Smith F.J.; Jolliffe V.M.; McLean W.H.I.; Neill S.; Rustin M.H.; Eady R.A.;
Br. J. Dermatol. 140:689-695(1999)
Cited for: VARIANT IBS LYS-487;

Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.
Akiyama M.; Tsuji-Abe Y.; Yanagihara M.; Nakajima K.; Kodama H.; Yaosaka M.; Abe M.; Sawamura D.; Shimizu H.;
Br. J. Dermatol. 152:1353-1356(2005)
Cited for: VARIANTS IBS PRO-484 AND LYS-487;

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.