UniProtKB/Swiss-Prot P35247: Variant p.Thr180Ala

Pulmonary surfactant-associated protein D
Gene: SFTPD
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Variant information Variant position:

180 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 Threonine (T) to Alanine (A) at position 180 (T180A, p.Thr180Ala). 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 medium size and polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Other resources:

Links to websites of interest for the variant.

Variant rs2243639 [ dbSNP | Ensembl ]

Sequence information Variant position:

180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

375 The length of the canonical sequence.
Location on the sequence:

GLAGPKGERGVPGERGVPGN T GAAGSAGAMGPQGSPGARGP 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                         GLAGPKGERGVPGERGVPGNTGAAGSAGAMGPQGSPGARGP

Rhesus macaque                GPAGPKGDRGVPGERGAPGNAGAAGSAGVMGPQGSPGARGP

Mouse                         GSTGPKGERGAPGVQGAPGNAGAAGPAGPAGPQGAPGSRGP

Rat                           GPAGPKGERGAPGEQGAPGNAGAAGPAGPAGPQGAPGSRGP

Pig                           GPAGLKGERGAPGERGAPGSAGAAGPAGATGPQGPSGARGP

Bovine                        GPAGLKGERGAPGEPGAPGRAGAPGPAGAIGPQGPSGARGP

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 – 375	Pulmonary surfactant-associated protein D
Domain	46 – 222	Collagen-like
Region	45 – 221	Disordered
Modified residue	171 – 171	4-hydroxyproline
Modified residue	177 – 177	4-hydroxyproline

Literature citations
Purification, characterization and cDNA cloning of human lung surfactant protein D.
Lu J.; Willis A.C.; Reid K.B.M.;
Biochem. J. 284:795-802(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 214-243; VARIANTS THR-31 AND ALA-180; Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).
Halleck A.; Ebert L.; Mkoundinya M.; Schick M.; Eisenstein S.; Neubert P.; Kstrang K.; Schatten R.; Shen B.; Henze S.; Mar W.; Korn B.; Zuo D.; Hu Y.; LaBaer J.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS THR-31 AND ALA-180; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-31; VAL-123; ALA-180; THR-290 AND LYS-309; 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 THR-31; VAL-123; ALA-180 AND THR-290;

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.