Variant position: 73 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 ALLMGLHMSQKHTEMVLEMS IG-APEAQQRLALSEHLVTTAT
Rhesus macaque ALLMGLHMSQKHTEMVLEMS IG-APEAQQHLARSGHLVTTA
Mouse ALLMGLHMSQKHTEMVLEMS IG-APETQKRLAPSERADTIA
Rat ALLMGLHMSQKHTEMVLEMS IGGAPETQKRLALSEHTDTIA
Pig ALLMGL-------------- ---------------------
Bovine ALLMGLHMSQKHTEMVLEMS IT-GPEAQQRLALSERVGTTA
Rabbit ALLMGLHMSQKHTEMVLEMS IG-APEVQQRLALSEWAGTTA
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
59 – 197
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.
Tredano M.; Griese M.; Brasch F.; Schumacher S.; de Blic J.; Marque S.; Houdayer C.; Elion J.; Couderc R.; Bahuau M.;
Am. J. Med. Genet. A 126:18-26(2004)
Cited for: VARIANTS SMDP2 THR-73 AND GLN-167;
Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.
Brasch F.; Griese M.; Tredano M.; Johnen G.; Ochs M.; Rieger C.; Mulugeta S.; Mueller K.M.; Bahuau M.; Beers M.F.;
Eur. Respir. J. 24:30-39(2004)
Cited for: VARIANT SMDP2 THR-73; CHARACTERIZATION OF VARIANT SMDP2 THR-73;
Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation.
Percopo S.; Cameron H.S.; Nogee L.M.; Pettinato G.; Montella S.; Santamaria F.;
Eur. Respir. J. 24:1072-1073(2004)
Cited for: VARIANT SMDP2 THR-73;
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.