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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BQL6: Variant p.Ser400Pro

Fermitin family homolog 1
Gene: FERMT1
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Variant information Variant position: help 400
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Proline (P) at position 400 (S400P, p.Ser400Pro).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (P)
BLOSUM score: help -1
Variant description: help In KNDLRS.
Other resources: help


Sequence information Variant position: help 400
Protein sequence length: help 677
Location on the sequence: help RPKKLLPKAFKQYWFIFKDT S IAYFKNKELEQGEPLEKLNL
Residue conservation: help
Human                         RPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNL

Mouse                         RPKKLMLKACKQYWFVFKDTSIAYFKNKELEQGEPIEKLNL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 677 Fermitin family homolog 1
Domain 96 – 653 FERM
Domain 377 – 473 PH
Alternative sequence 1 – 447 Missing. In isoform 3.



Literature citations
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C.; Castiglia D.; del Rio M.; Diez M.G.; Piccinni E.; Kiritsi D.; Kohlhase J.; Itin P.; Martin L.; Fischer J.; Zambruno G.; Bruckner-Tuderman L.;
Hum. Mutat. 32:1204-1212(2011)
Cited for: VARIANTS KNDLRS ARG-100 DEL; PRO-400; ARG-559 AND ILE-623 DEL;
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.