UniProtKB/Swiss-Prot P11686: Variant p.Thr138Asn

Surfactant protein C
Gene: SFTPC
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Variant information Variant position:

138 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 Asparagine (N) at position 138 (T138N, p.Thr138Asn). 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 polar. 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 rs4715 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GTCCYIMKIAPESIPSLEAL T RKVHNFQMECSLQAKPAVPT 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                         GTCCYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPT

                              -----------------------------------------

Rhesus macaque                GTWCYIMKTAPESIPSLEALTRKVQNF------QAKPAVPT

Mouse                         GTYCYIMKMAPESIPSLEAFARKLQNF------RAKPSTPT

Rat                           GTYCYIMKMAPESIPSLEALARKFKNF------QAKSSTPT

Pig                           -----------------------------------------

Bovine                        GTCCYIMKMAPQNIPSLEALTRKLQNF------QAKPQVPS

Rabbit                        GTCCYLMKMAPDSIPSLEALARK---F------QANPAEPP

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
Propeptide	59 – 197
Domain	94 – 197	BRICHOS
Disulfide bond	120 – 148
Disulfide bond	121 – 189
Helix	134 – 143

Literature citations
Low molecular weight human pulmonary surfactant protein (SP5): isolation, characterization, and cDNA and amino acid sequences.
Warr R.G.; Hawgood S.; Buckley D.I.; Crisp T.M.; Schilling J.; Benson B.J.; Ballard P.L.; Clements J.A.; White R.T.;
Proc. Natl. Acad. Sci. U.S.A. 84:7915-7919(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASN-138 AND ASN-186; cDNA, deduced polypeptide structure and chromosomal assignment of human pulmonary surfactant proteolipid, SPL(pVal).
Glasser S.W.; Korfhagen T.R.; Weaver T.E.; Clark J.C.; Pilot-Matias T.; Meuth J.; Fox J.L.; Whitsett J.A.;
J. Biol. Chem. 263:9-12(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 26-42; VARIANTS ASN-138 AND ASN-186; A computer system platform used to predict novel genes.
Yu Z.; Zheng Z.; Tang T.; Fu Y.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANTS ASN-138 AND ASN-186; 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] (ISOFORM 1); VARIANTS ASN-138 AND ASN-186; Surfactant protein C gene variation in the Finnish population -association with perinatal respiratory disease.
Lahti M.; Marttila R.; Hallman M.;
Eur. J. Hum. Genet. 12:312-320(2004)
Cited for: VARIANTS ASN-138 AND ASN-186;

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.