UniProtKB/SwissProt variant VAR

Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
Gene: CSF2RA
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Variant information Variant position:

196
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 196 (G196R, p.Gly196Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In SMDP4.
Other resources:

Variant rs137852353 [ dbSNP | Ensembl ]

Sequence information Variant position:

196
Protein sequence length:

400
Location on the sequence:

VGCHLDNLSGLTSRNYFLVN G TSREIGIQFFDSLLDTKKIE
Residue conservation:

Human                         V--GCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIE

Mouse                         VITQCIANDLSLLGSEAYLVVTGRSGAGPVRFLDDVVATKA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	23 – 400	Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
Topological domain	23 – 320	Extracellular
Glycosylation	182 – 182	N-linked (GlcNAc...) asparagine
Glycosylation	195 – 195	N-linked (GlcNAc...) asparagine
Beta strand	188 – 197

Literature citations
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.
Suzuki T.; Sakagami T.; Rubin B.K.; Nogee L.M.; Wood R.E.; Zimmerman S.L.; Smolarek T.; Dishop M.K.; Wert S.E.; Whitsett J.A.; Grabowski G.; Carey B.C.; Stevens C.; van der Loo J.C.; Trapnell B.C.;
J. Exp. Med. 205:2703-2710(2008)
Cited for: VARIANT SMDP4 ARG-196;

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 P15509: Variant p.Gly196Arg