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UniProtKB/Swiss-Prot Q7Z3Y8: Variant p.Ser52Thr

Keratin, type I cytoskeletal 27
Gene: KRT27
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Variant information Variant position: help 52
Type of variant: help LB/B
Residue change: help From Serine (S) to Threonine (T) at position 52 (S52T, p.Ser52Thr).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (T)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 52
Protein sequence length: help 459
Location on the sequence: help AGNTCGVPGIGSGFSCAFGG S SSAGGYGGGLGGGSASCAAF
Residue conservation: help
Human                         AGNTCGVPGIGSGFSCAFGGSSSAGGYGGGLGGGSASCAAF

Mouse                         AGNACGVPGIGSGFSCAFGGSSLA----GGLGMGGASCGAF

Rat                           AGNTCGVPGIGSGFSCAFGGSSLA----GGLGMGGASCGAF

Bovine                        VGSTGSVPGFGSGFTCAFGGSSSAGSYSGGLGGGSASCTAF

Goat                          VGSTGSVPGFGSGFTCAFGGSSSAGSYSGGLGGGSASCTAF

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 459 Keratin, type I cytoskeletal 27
Region 1 – 83 Head



Literature citations
The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain.
Rogers M.A.; Winter H.; Langbein L.; Bleiler R.; Schweizer J.;
Differentiation 72:527-540(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANTS THR-52; LYS-144 AND THR-305;
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.