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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IWL2: Variant p.Val19Ala

Pulmonary surfactant-associated protein A1
Gene: SFTPA1
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Variant information Variant position: help 19 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Valine (V) to Alanine (A) at position 19 (V19A, p.Val19Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism: help At least 5 allelic variants of SFTPA1 are known: 6A, 6A(2), 6A(3), 6A(4) and 6A(5). The sequence shown is that of allele 6A(3). Additional information on the polymorphism described.
Variant description: help In allele 6A and allele 6A(5). Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 19 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 248 The length of the canonical sequence.
Location on the sequence: help MWLCPLALNLILMAASGA V CEVKDVCVGSPGIPGTPGSH 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.
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Signal peptide 1 – 20
Modified residue 30 – 30 4-hydroxyproline
Modified residue 33 – 33 4-hydroxyproline
Modified residue 36 – 36 4-hydroxyproline
Disulfide bond 26 – 26 Interchain
Alternative sequence 1 – 1 M -> MRPCQVPGAATGPRAM. In isoform 2.



Literature citations
Isolation and characterization of cDNA clones for the 35-kDa pulmonary surfactant-associated protein.
Floros J.; Steinbrink R.; Jacobs K.; Phelps D.; Kriz R.; Recny M.; Sultzman L.; Jones S.; Taeusch H.W.; Frank H.A.; Fritsch E.F.;
J. Biol. Chem. 261:9029-9033(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ALA-19; ACETYLATION; Human SP-A1 (SFTPA1) variant-specific 3' UTRs and poly(A) tail differentially affect the in vitro translation of a reporter gene.
Silveyra P.; Wang G.; Floros J.;
Am. J. Physiol. 299:L523-L534(2010)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ALA-19; VAL-50 AND TRP-219; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-9; ALA-19; VAL-50 AND TRP-219; 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 LEU-5; THR-9; ALA-19; VAL-50 AND TRP-219;
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.