Sequence information
Variant position: 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 360 The length of the canonical sequence.
Location on the sequence:
TALIEQRLAQEEENEKLRGD
A RQKLPMDLLVLEDEKHHGAQ
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TALIEQRLAQEEENEKLRGDA RQKLPMDLLVLEDEKHHGAQ
Mouse TELIEQRLAQEEETEKLRRSA PGKLSMDMLVLEEEKRLGVQ
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 360
Ankyrin repeat domain-containing protein 2
Region
5 – 120
May mediate interaction with PML, p53/TP53 and YBX1
Literature citations
Characterization of human skeletal muscle Ankrd2.
Pallavicini A.; Kojic S.; Bean C.; Vainzof M.; Salamon M.; Ievolella C.; Bortoletto G.; Pacchioni B.; Zatz M.; Lanfranchi G.; Faulkner G.; Valle G.;
Biochem. Biophys. Res. Commun. 285:378-386(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); NUCLEOTIDE SEQUENCE [MRNA] OF 25-360 (ISOFORM 1); VARIANT THR-62; TISSUE SPECIFICITY;
The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a family of titin filament-based stress response molecules.
Miller M.K.; Bang M.-L.; Witt C.C.; Labeit D.; Trombitas C.; Watanabe K.; Granzier H.; McElhinny A.S.; Gregorio C.C.; Labeit S.;
J. Mol. Biol. 333:951-964(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; INTERACTION WITH TTN; VARIANT THR-62;
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); VARIANT THR-62;
Identification of a novel human ankyrin-repeated protein homologous to CARP.
Moriyama M.; Tsukamoto Y.; Fujiwara M.; Kondo G.; Nakada C.; Baba T.; Ishiguro N.; Miyazaki A.; Nakamura K.; Hori N.; Sato K.; Shomori K.; Takeuchi K.; Satoh H.; Mori S.; Ito H.;
Biochem. Biophys. Res. Commun. 285:715-723(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 25-360 (ISOFORM 1); TISSUE SPECIFICITY; VARIANT THR-62;
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.