UniProtKB/SwissProt variant VAR

Fermitin family homolog 1
Gene: FERMT1
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Variant information Variant position:

400
Type of variant:

LP/P [Disclaimer]
Residue change:

From Serine (S) to Proline (P) at position 400 (S400P, p.Ser400Pro).
Physico-chemical properties:

Change from small size and polar (S) to medium size and hydrophobic (P)
BLOSUM score:

-1
Variant description:

In KNDLRS.
Other resources:

Variant rs869312718 [ dbSNP | Ensembl ]

Sequence information Variant position:

400
Protein sequence length:

677
Location on the sequence:

RPKKLLPKAFKQYWFIFKDT S IAYFKNKELEQGEPLEKLNL
Residue conservation:

Human                         RPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNL

Mouse                         RPKKLMLKACKQYWFVFKDTSIAYFKNKELEQGEPIEKLNL

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BQL6: Variant p.Ser400Pro