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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5IJ48: Variant p.Val709Ala

Protein crumbs homolog 2
Gene: CRB2
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Variant information Variant position: help 709
Type of variant: help LB/B
Residue change: help From Valine (V) to Alanine (A) at position 709 (V709A, p.Val709Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to small size and hydrophobic (A)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 709
Protein sequence length: help 1285
Location on the sequence: help ANDSAAGLTVFLSEGRIRAE V PGSPAVVLPGRWDDGLRHLV
Residue conservation: help 
Human                         ANDSAAGLTVFLSEGRIRAEVPGSPAVVLPGRWDDGLRHLV

Mouse                         ANDSVASLTVFLSEGQIRAEGLGHPAVVLPGRWDDGLPHLV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 1285 Protein crumbs homolog 2
Domain 647 – 805 Laminin G-like 2
Glycosylation 690 – 690 N-linked (GlcNAc...) asparagine



Literature citations
Characterization of the crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
van den Hurk J.A.J.M.; Rashbass P.; Roepman R.; Davis J.; Voesenek K.E.J.; Arends M.L.; Zonneveld M.N.; van Roekel M.H.G.; Cameron K.; Rohrschneider K.; Heckenlively J.R.; Koenekoop R.K.; Hoyng C.B.; Cremers F.P.M.; den Hollander A.I.;
Mol. Vis. 11:263-273(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANTS LEU-46; LEU-97; LEU-116; THR-145; ALA-159; ASP-187; THR-351; GLN-534; TRP-610; ALA-709; GLN-746 AND MET-1110; 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] (ISOFORMS 2 AND 3); VARIANTS ASN-90; THR-145; ALA-159 AND ALA-709;
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.