UniProtKB/Swiss-Prot Q8IWL2: Variant p.Leu50Val

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 50 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 Leucine (L) to Valine (V) at position 50 (L50V, p.Leu50Val). 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: Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 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: 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: In allele 6A(2). Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1136450 [ dbSNP | Ensembl ]

Sequence information

Variant position: 50 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: PGIPGTPGSHGLPGRDGRDG L KGDPGPPGPMGPPGEMPCPP 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	28 – 100	Collagen-like
Region	31 – 101	Disordered
Modified residue	30 – 30	4-hydroxyproline
Modified residue	33 – 33	4-hydroxyproline
Modified residue	36 – 36	4-hydroxyproline
Modified residue	42 – 42	4-hydroxyproline
Modified residue	54 – 54	4-hydroxyproline
Modified residue	57 – 57	4-hydroxyproline
Modified residue	63 – 63	4-hydroxyproline
Modified residue	67 – 67	4-hydroxyproline
Modified residue	70 – 70	4-hydroxyproline

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; 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;