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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35908: Variant p.Glu487Lys

Keratin, type II cytoskeletal 2 epidermal
Gene: KRT2
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Variant information Variant position: help 487
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 487 (E487K, p.Glu487Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In IBS.
Other resources: help


Sequence information Variant position: help 487
Protein sequence length: help 639
Location on the sequence: help MNVKLALDVEIATYRKLLEG E ECRMSGDLSSNVTVSVTSST
Residue conservation: help
Human                         MNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSST

                              MNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSSS

Mouse                         MNTKLSLDVEIATYRKLLEGEECRMSGDFSDNVSVSITSST

Rat                           MNVKLALDVEIATYRKLLEGEECRMSGDFSDNVSVSVTSST

Sequence annotation in neighborhood: help
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.