Variant position:  186

Type of variant:  Polymorphism

Residue change:  From Asparagine (N) to Serine (S) at position 186 (N186S, p.Asn186Ser).

Physico-chemical properties:  Change from medium size and polar (N) to small size and polar (S)

BLOSUM score:  1

Variant description:  Influences susceptibility to RDS in premature infants.

Other resources:  

• Variant rs1124 [ dbSNP | Ensembl ]

Variant position:  186

Protein sequence length:  197

Location on the sequence:   GRDAGSAPSGGDPAFLGMAV  N TLCGEVPLYYI

Residue conservation: 

Human                         GRDAGSAP--SGGDPAFLGMAVNTLCGEVPLYYI

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

Rhesus macaque                GRDAGSAP--SRGDLAFLGMAVSTLCGEVPLY

Mouse                         GHDTGSESDSSGRDLAFLGLAVSTLCGELPLY

Rat                           GHSAGSDSDSSGRDLAFLGLAVSTLCGELPLY

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

Bovine                        GHDAGSAF--SG-DLAFLGRTVSTLCGEVPLY

Rabbit                        GPAAGPAS--SGGELAFLGAAVSTLCGEVPLI

Sequence annotation in neighborhood:  

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;