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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48448: Variant p.Ser220Gly

Aldehyde dehydrogenase family 3 member B2
Gene: ALDH3B2
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Variant information Variant position: help 220
Type of variant: help LB/B
Residue change: help From Serine (S) to Glycine (G) at position 220 (S220G, p.Ser220Gly).
Physico-chemical properties: help Change from small size and polar (S) to glycine (G)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 220
Protein sequence length: help 385
Location on the sequence: help NLGHIINQKQFQRLRALLGC S RVAIGGQSNESDRYIAPTVL
Residue conservation: help
Human                         NLGHIINQKQFQRLRALLGCSRVAIGGQSNESDRYIAPTVL

Mouse                         NLGRIINQKHFKRLQGLLGCGRVAIGGQSDEGERYIAPTVL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 382 Aldehyde dehydrogenase family 3 member B2



Literature citations
Cloning and characterization of genes encoding four additional human aldehyde dehydrogenase isozymes.
Hsu L.C.; Chang W.-C.; Lin S.W.; Yoshida A.;
Adv. Exp. Med. Biol. 372:159-168(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ASN-52; ARG-203; GLY-220 AND ARG-361; Sequencing and expression of the human ALDH8 encoding a new member of the aldehyde dehydrogenase family.
Hsu L.C.; Chang W.-C.;
Gene 174:319-322(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ASN-52; ARG-203; GLY-220 AND ARG-361; TISSUE SPECIFICITY; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ARG-203; GLY-220 AND TRP-276; 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]; VARIANTS ASN-52; ARG-203; GLY-220 AND ARG-361; 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]; VARIANTS ARG-203; GLY-220 AND TRP-276;
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.