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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IWL1: Variant p.Gln223Lys

Pulmonary surfactant-associated protein A2
Gene: SFTPA2
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Variant information Variant position: help 223 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 Glutamine (Q) to Lysine (K) at position 223 (Q223K, p.Gln223Lys). 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 polar (Q) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 6 alleles of SFTPA2 are known: 1A, 1A(0), 1A(1), 1A(2), 1A(3) and 1A(4). The sequence shown is that of allele 1A(2). Additional information on the polymorphism described.
Variant description: help In allele 1A(1), allele 1A(3) and allele 1A(4). Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 223 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 GTPVNYTNWYRGEPAGRGKE Q CVEMYTDGQWNDRNCLYSRL 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
Chain 21 – 248 Pulmonary surfactant-associated protein A2
Domain 132 – 248 C-type lectin
Glycosylation 207 – 207 N-linked (GlcNAc...) asparagine
Disulfide bond 155 – 246



Literature citations
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 ASN-9 AND LYS-223; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASN-9; LEU-50; PRO-91 AND LYS-223; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ASN-9 AND LYS-223; 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 ASN-9; TRP-12; LEU-50; PRO-91 AND LYS-223; VARIANTS ILD2 SER-198 AND VAL-231;
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.