Variant position: 394 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 455 The length of the canonical sequence.
Location on the sequence:
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 FPKILMKITDLRSISAKGAE RVITLKMEIPGSMPPLIQEML
Mouse FPKILMKITDLRSISAKGAE RVITLKMEIPGSMPPLIQEML
Chicken FPKILMKITDLRSISAKGAE RVITLKMEIPGSMPPLIQEML
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.
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
Srour M.; Chitayat D.; Caron V.; Chassaing N.; Bitoun P.; Patry L.; Cordier M.P.; Capo-Chichi J.M.; Francannet C.; Calvas P.; Ragge N.; Dobrzeniecka S.; Hamdan F.F.; Rouleau G.A.; Tremblay A.; Michaud J.L.;
Am. J. Hum. Genet. 93:765-772(2013)
Cited for: VARIANTS MCOPS12 SER-394 AND CYS-394; CHARACTERIZATION OF VARIANTS MCOPS12 SER-394 AND CYS-394;
Gain-of-function mutations in RARB cause intellectual disability with progressive motor impairment.
Srour M.; Caron V.; Pearson T.; Nielsen S.B.; Levesque S.; Delrue M.A.; Becker T.A.; Hamdan F.F.; Kibar Z.; Sattler S.G.; Schneider M.C.; Bitoun P.; Chassaing N.; Rosenfeld J.A.; Xia F.; Desai S.; Roeder E.; Kimonis V.; Schneider A.; Littlejohn R.O.; Douzgou S.; Tremblay A.; Michaud J.L.;
Hum. Mutat. 37:786-793(2016)
Cited for: VARIANTS MCOPS12 PRO-220; ALA-303 AND CYS-394; CHARACTERIZATION OF VARIANT MCOPS12 PRO-220; ALA-303; SER-394 AND CYS-394;
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.