UniProtKB/SwissProt variant VAR

Serine protease 56
Gene: PRSS56
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Variant information Variant position:

309
Type of variant:

LP/P [Disclaimer]
Residue change:

From Tryptophan (W) to Serine (S) at position 309 (W309S, p.Trp309Ser).
Physico-chemical properties:

Change from large size and aromatic (W) to small size and polar (S)
BLOSUM score:

-3
Variant description:

In MCOP6.
Other resources:

Variant rs387907095 [ dbSNP | Ensembl ]

Sequence information Variant position:

309
Protein sequence length:

603
Location on the sequence:

PLTCSEPGPRPREVLFGVTS W GDGCGEPGKPGVYTRVAVFK
Residue conservation:

Human                         PLTCSEPGPRPREVLFGVTSWGDGCGEPGKPGVYTRVAVFK

Mouse                         PLTCSEPGPRPREVLFGVTSWGDGCGEPGKPGVYTRVTVFK

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	20 – 603	Serine protease 56
Domain	105 – 337	Peptidase S1
Disulfide bond	282 – 313

Literature citations
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Gal A.; Rau I.; El Matri L.; Kreienkamp H.J.; Fehr S.; Baklouti K.; Chouchane I.; Li Y.; Rehbein M.; Fuchs J.; Fledelius H.C.; Vilhelmsen K.; Schorderet D.F.; Munier F.L.; Ostergaard E.; Thompson D.A.; Rosenberg T.;
Am. J. Hum. Genet. 88:382-390(2011)
Cited for: FUNCTION; INVOLVEMENT IN MCOP6; VARIANTS MCOP6 GLY-176 AND SER-309; TISSUE SPECIFICITY;

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 P0CW18: Variant p.Trp309Ser