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UniProtKB/Swiss-Prot Q04695: Variant p.Met88Lys

Keratin, type I cytoskeletal 17
Gene: KRT17
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Variant information Variant position: help 88
Type of variant: help LP/P [Disclaimer]
Residue change: help From Methionine (M) to Lysine (K) at position 88 (M88K, p.Met88Lys).
Physico-chemical properties: help Change from medium size and hydrophobic (M) to large size and basic (K)
BLOSUM score: help -1
Variant description: help In PC2.
Other resources: help


Sequence information Variant position: help 88
Protein sequence length: help 432
Location on the sequence: help GYGSSFGGVDGLLAGGEKAT M QNLNDRLASYLDKVRALEEA
Residue conservation: help
Human                         G----------YGSSFGGVDGLLAGGEKATMQNLNDRLASYLDKVRALEEA

Chimpanzee                    G----------YGSSFGGVDGLLAGGEKATMQNLNDRLASY

Mouse                         G----------YGGNFGGVDGLLAGGEKATMQNLNDRLASY

Rat                           G----------YGGNFGGVDGLLAGGEKATMQNLNDRLASY

Bovine                        GYGSGGYVSGGYGGGFGGVDGLLVGGEKATMQNLNDRLASY

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 432 Keratin, type I cytoskeletal 17
Domain 84 – 395 IF rod
Region 84 – 120 Coil 1A
Mutagenesis 103 – 103 R -> A. Down-regulates both proliferation of psoriatic T-cells and IFN-gamma production; suppresses keratinocyte growth when part of the altered peptide epitope S1.
Mutagenesis 106 – 106 E -> A. Down-regulates proliferation of psoriatic T-cells and IFN-gamma production when part of the altered peptide epitope S1.



Literature citations
A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb.
Tsuda T.; Ishikawa C.; Nakagawa N.; Konishi H.; Tarutani M.; Matsuki M.; Yamanishi K.;
Br. J. Dermatol. 159:730-732(2008)
Cited for: VARIANT PC2 LYS-88;
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.