UniProtKB/SwissProt variant VAR

Phospholipase A2 group V
Gene: PLA2G5
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Variant information Variant position:

49
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Serine (S) at position 49 (G49S, p.Gly49Ser).
Physico-chemical properties:

Change from glycine (G) to small size and polar (S)
BLOSUM score:

0
Variant description:

In FRFB.
Other resources:

Variant rs387906796 [ dbSNP | Ensembl ]

Sequence information Variant position:

49
Protein sequence length:

138
Location on the sequence:

IEKVTGKNALTNYGFYGCYC G WGGRGTPKDGTDWCCWAHDH
Residue conservation:

Human                         IEKVTGKNALTNYGFYGCYCGWGGRGTPKDGTDWCCWAHDH

Mouse                         IEKVTGKNAFKNYGFYGCYCGWGGRGTPKDGTDWCCQMHDR

Rat                           IEKVTGKNAVKNYGFYGCYCGWGGHGTPKDGTDWCCRMHDR

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	21 – 138	Phospholipase A2 group V
Active site	67 – 67
Binding site	47 – 47
Binding site	49 – 49
Binding site	51 – 51
Binding site	68 – 68
Disulfide bond	46 – 137
Disulfide bond	48 – 64
Mutagenesis	50 – 50	W -> A. Impairs arachidonate release from cell membranes.

Literature citations
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
Sergouniotis P.I.; Davidson A.E.; Mackay D.S.; Lenassi E.; Li Z.; Robson A.G.; Yang X.; Kam J.H.; Isaacs T.W.; Holder G.E.; Jeffery G.; Beck J.A.; Moore A.T.; Plagnol V.; Webster A.R.;
Am. J. Hum. Genet. 89:782-791(2011)
Cited for: INVOLVEMENT IN FRFB; VARIANTS FRFB CYS-45 AND SER-49; 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 P39877: Variant p.Gly49Ser