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UniProtKB/Swiss-Prot P11686: Variant p.Asn138Thr

Pulmonary surfactant-associated protein C
Gene: SFTPC
Chromosomal location: 8p21
Variant information

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

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Asparagine (N) to Threonine (T) at position 138 (N138T, p.Asn138Thr).
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

Variant description:  Influences susceptibility to RDS in premature infants.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



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  N 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                         GTCCYIMKIAPESIPSLEALNRKVHNFQMECSLQAKPAVPT

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

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.

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


Literature citations

Two SP-C genes encoding human pulmonary surfactant proteolipid.
Glasser S.W.; Korfhagen T.R.; Perme C.M.; Pilot-Matias T.J.; Kister S.E.; Whitsett J.A.;
J. Biol. Chem. 263:10326-10331(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING; VARIANT THR-138;

Human surfactant protein-C: genetic homogeneity and expression in RDS; comparison with other species.
Hatzis D.; Deiter G.; deMello D.E.; Floros J.;
Exp. Lung Res. 20:57-72(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS THR-138 AND SER-186;

Submission
Frerking I.; Stevens P.; Pison U.; Witt H.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS THR-138 AND SER-186;

Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS THR-138 AND SER-186;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-138 AND SER-186;

DNA sequence and analysis of human chromosome 8.
Nusbaum C.; Mikkelsen T.S.; Zody M.C.; Asakawa S.; Taudien S.; Garber M.; Kodira C.D.; Schueler M.G.; Shimizu A.; Whittaker C.A.; Chang J.L.; Cuomo C.A.; Dewar K.; FitzGerald M.G.; Yang X.; Allen N.R.; Anderson S.; Asakawa T.; Blechschmidt K.; Bloom T.; Borowsky M.L.; Butler J.; Cook A.; Corum B.; DeArellano K.; DeCaprio D.; Dooley K.T.; Dorris L. III; Engels R.; Gloeckner G.; Hafez N.; Hagopian D.S.; Hall J.L.; Ishikawa S.K.; Jaffe D.B.; Kamat A.; Kudoh J.; Lehmann R.; Lokitsang T.; Macdonald P.; Major J.E.; Matthews C.D.; Mauceli E.; Menzel U.; Mihalev A.H.; Minoshima S.; Murayama Y.; Naylor J.W.; Nicol R.; Nguyen C.; O'Leary S.B.; O'Neill K.; Parker S.C.J.; Polley A.; Raymond C.K.; Reichwald K.; Rodriguez J.; Sasaki T.; Schilhabel M.; Siddiqui R.; Smith C.L.; Sneddon T.P.; Talamas J.A.; Tenzin P.; Topham K.; Venkataraman V.; Wen G.; Yamazaki S.; Young S.K.; Zeng Q.; Zimmer A.R.; Rosenthal A.; Birren B.W.; Platzer M.; Shimizu N.; Lander E.S.;
Nature 439:331-335(2006)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS THR-138 AND SER-186;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS THR-138 AND SER-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 THR-138 AND SER-186; INVOLVEMENT IN RDS;

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.