Variant position: 188 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 197 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 DAGSAP--SGGDPAFLGMAVNT LCGEVPLYYI
Rhesus macaque DAGSAP--SRGDLAFLGMAVST LCGEVPLY
Mouse DTGSESDSSGRDLAFLGLAVST LCGELPLY
Rat SAGSDSDSSGRDLAFLGLAVST LCGELPLY
Pig ---------------------- --------
Bovine DAGSAF--SG-DLAFLGRTVST LCGEVPLY
Rabbit AAGPAS--SGGELAFLGAAVST LCGEVPLI
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.
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.
Thomas A.Q.; Lane K.; Phillips J.A. III; Prince M.; Markin C.; Speer M.; Schwartz D.A.; Gaddipati R.; Marney A.; Johnson J.; Roberts R.; Haines J.; Stahlman M.; Loyd J.E.;
Am. J. Respir. Crit. Care Med. 165:1322-1328(2002)
Cited for: VARIANT SMDP2 GLN-188;
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