UniProtKB/Swiss-Prot Q8IWL2: Variant p.Arg219Trp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: From Arginine (R) to Tryptophan (W) at position 219 (R219W, p.Arg219Trp). 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: Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -3 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: 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: Probable risk factor for idiopathic pulmonary fibrosis in smokers; allele 6A(4) and allele 6A(5); does not affect secretion. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs4253527 [ dbSNP | Ensembl ]

Sequence information

Variant position: 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 248 The length of the canonical sequence.
Location on the sequence: RYSDGTPVNYTNWYRGEPAG R GKEQCVEMYTDGQWNDRNCL 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: 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
Chain	21 – 248	Pulmonary surfactant-associated protein A1
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 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; Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis.
Selman M.; Lin H.-M.; Montano M.; Jenkins A.L.; Estrada A.; Lin Z.; Wang G.; DiAngelo S.L.; Guo X.; Umstead T.M.; Lang C.M.; Pardo A.; Phelps D.S.; Floros J.;
Hum. Genet. 113:542-550(2003)
Cited for: VARIANT TRP-219; ASSOCIATION WITH IDIOPATHIC PULMONARY FIBROSIS; 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; Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.
Nathan N.; Giraud V.; Picard C.; Nunes H.; Dastot-Le Moal F.; Copin B.; Galeron L.; De Ligniville A.; Kuziner N.; Reynaud-Gaubert M.; Valeyre D.; Couderc L.J.; Chinet T.; Borie R.; Crestani B.; Simansour M.; Nau V.; Tissier S.; Duquesnoy P.; Mansour-Hendili L.; Legendre M.; Kannengiesser C.; Coulomb-L'Hermine A.; Gouya L.; Amselem S.; Clement A.;
Hum. Mol. Genet. 25:1457-1467(2016)
Cited for: VARIANT ILD1 ARG-211; CHARACTERIZATION OF VARIANT ILD1 ARG-211; VARIANT TRP-219; CHARACTERIZATION OF VARIANT TRP-219; INVOLVEMENT IN ILD1; SUBCELLULAR LOCATION;