UniProtKB/SwissProt variant VAR

Protein O-mannosyl-transferase 1
Gene: POMT1
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Variant information Variant position:

251
Type of variant:

LB/B
Residue change:

From Glutamine (Q) to Arginine (R) at position 251 (Q251R, p.Gln251Arg).
Physico-chemical properties:

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

1
Other resources:

Variant rs2296949 [ dbSNP | Ensembl ]

Sequence information Variant position:

251
Protein sequence length:

747
Location on the sequence:

LSNVGADVQCCMRPACMGQM Q MSQGVCVFCHLLARAVALLV
Residue conservation:

Human                         LSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLV

Mouse                         LSN----------------------MRVLSHLLARIVALLV

Rat                           LSN----------------------ICVLSHLLARAVALLV

Zebrafish                     LSH----------------------GKVMFQVLVRFLALVV

Drosophila                    LTD----------------------RQLWMHAISRLLIFVG

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 747	Protein O-mannosyl-transferase 1
Alternative sequence	234 – 255	Missing. In isoform 2, isoform 3 and isoform 4.

Literature citations
Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.
Perez Jurado L.A.; Coloma A.; Cruces J.;
Genomics 58:171-180(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2); ALTERNATIVE SPLICING; VARIANT ARG-251; 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 4); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 53-747 (ISOFORM 1); VARIANT ARG-251;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6A1: Variant p.Gln251Arg