Variant position: 196 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 400 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human V--GCHLDNLSGLTSRNYFLVN GTSREIGIQFFDSLLDTKKIE
Mouse VITQCIANDLSLLGSEAYLVVT GRSGAGPVRFLDDVVATKA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
23 – 400 Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
23 – 320 Extracellular
182 – 182 N-linked (GlcNAc...) asparagine
195 – 195 N-linked (GlcNAc...) asparagine
188 – 197
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;
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