Sequence information
Variant position: 186 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:
GRDAGSAPSGGDPAFLGMAV
N TLCGEVPLYYI
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 GRDAGSA--PSGGDPAFLGMAVN TLCGEVPLYYI
----------------------- ---------
Rhesus macaque GRDAGSA--PSRGDLAFLGMAVS TLCGEVPLY
Mouse GHDTGSESDSSGRDLAFLGLAVS TLCGELPLY
Rat GHSAGSDSDSSGRDLAFLGLAVS TLCGELPLY
Pig ----------------------- ---------
Bovine GHDAGSA--FSG-DLAFLGRTVS TLCGEVPLY
Rabbit GPAAGPA--SSGGELAFLGAAVS TLCGEVPLI
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.
Literature citations
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.