UniProtKB/SwissProt variant VAR

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

487
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glutamate (E) to Lysine (K) at position 487 (E487K, p.Glu487Lys).
Physico-chemical properties:

Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score:

1
Variant description:

In IBS.
Other resources:

Variant rs137852629 [ dbSNP | Ensembl ]

Sequence information Variant position:

487
Protein sequence length:

639
Location on the sequence:

MNVKLALDVEIATYRKLLEG E ECRMSGDLSSNVTVSVTSST
Residue conservation:

Human                         MNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSST

                              MNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSSS

Mouse                         MNTKLSLDVEIATYRKLLEGEECRMSGDFSDNVSVSITSST

Rat                           MNVKLALDVEIATYRKLLEGEECRMSGDFSDNVSVSVTSST

Sequence annotation in neighborhood:

Type	Positions	Description
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;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35908: Variant p.Glu487Lys