UniProtKB/SwissProt variant VAR

Bone morphogenetic protein receptor type-1A
Gene: BMPR1A
Feedback?

Variant information Variant position:

130
Type of variant:

LP/P [Disclaimer]
Residue change:

From Cysteine (C) to Arginine (R) at position 130 (C130R, p.Cys130Arg).
Physico-chemical properties:

Change from medium size and polar (C) to large size and basic (R)
BLOSUM score:

-3
Variant description:

In JPS.
Other resources:

Variant rs1131691168 [ dbSNP | Ensembl ]

Sequence information Variant position:

130
Protein sequence length:

532
Location on the sequence:

CKDSPKAQLRRTIECCRTNL C NQYLQPTLPPVVIGPFFDGS
Residue conservation:

Human                         CKDSPKAQLRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGS

Mouse                         CKDSPKAQLRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGS

Rat                           CKDSPKAQLRRTIECCRTNLCNQYLQPTLPPVVIGPFFDGS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	24 – 532	Bone morphogenetic protein receptor type-1A
Topological domain	24 – 152	Extracellular
Disulfide bond	125 – 130
Helix	130 – 133

Literature citations
Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.
Friedl W.; Uhlhaas S.; Schulmann K.; Stolte M.; Loff S.; Back W.; Mangold E.; Stern M.; Knaebel H.P.; Sutter C.; Weber R.G.; Pistorius S.; Burger B.; Propping P.;
Hum. Genet. 111:108-111(2002)
Cited for: VARIANT JPS ARG-130;

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 P36894: Variant p.Cys130Arg