UniProtKB/SwissProt variant VAR

Sodium- and chloride-dependent betaine transporter
Gene: SLC6A12
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Variant information Variant position:

10
Type of variant:

LB/B
Residue change:

From Cysteine (C) to Arginine (R) at position 10 (C10R, p.Cys10Arg).
Physico-chemical properties:

Change from medium size and polar (C) to large size and basic (R)
BLOSUM score:

-3
Other resources:

Variant rs557881 [ dbSNP | Ensembl ]

Sequence information Variant position:

10
Protein sequence length:

614
Location on the sequence:

MDGKVAVQE C GPPAVSWVPEEGEKLDQEDE
Residue conservation:

Human                         MDGKVAVQECGPPAVSWVPEEGEKLDQEDE

                              MDRKVAVPEDGPPVVSWLPEEGEKLDQEGE

Mouse                         MDRKVAVHEDGYPVVSWVPEEGEMMDQKGK

Rat                           MDRKVTVHEDGCPVVSWVPEEGEMMDQKDK

Rabbit                        MDTKLAVHEDAPPLVSWVPEEGEKLEQEGE

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 614	Sodium- and chloride-dependent betaine transporter
Topological domain	1 – 44	Cytoplasmic

Literature citations
Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney.
Rasola A.; Galietta L.J.V.; Barone V.; Romeo G.; Bagnasco S.;
FEBS Lett. 373:229-233(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-10; FUNCTION; TRANSPORTER ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; 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]; VARIANT ARG-10; 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]; VARIANT ARG-10;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48065: Variant p.Cys10Arg