Variant position: 123 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 375 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 GPSGPPGPPGVPGPAGREGP LGKQGNIGPQGKPGPKGEAGP
Rhesus macaque GPSGPPGPPGVPGPAGREGP LGKQGNIGPQGKPGPKGEAGP
Mouse GLSGPPGLPGIPGPAGKEGP SGKQGNIGPQGKPGPKGEAGP
Rat GLVGPPGSPGISGPAGKEGP SGKQGNIGPQGKPGPKGEAGP
Pig GPCGPPGPPGIPGPAGKEGP SGQQGNIGPPGTPGPKGETGP
Bovine G---PPGPPGMPGPAGREGP SGKQGSMGPPGTPGPKGDTGP
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
21 – 375 Pulmonary surfactant-associated protein D
46 – 222 Collagen-like
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-31; VAL-123; ALA-180; THR-290 AND LYS-309;
Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer.
Wang Y.; Kuan P.J.; Xing C.; Cronkhite J.T.; Torres F.; Rosenblatt R.L.; DiMaio J.M.; Kinch L.N.; Grishin N.V.; Garcia C.K.;
Am. J. Hum. Genet. 84:52-59(2009)
Cited for: VARIANTS THR-31; VAL-123; ALA-180 AND THR-290;
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