Sequence information
Variant position: 284 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 289 The length of the canonical sequence.
Location on the sequence:
DQRDGSKSEDELDQASTPTD
V RDIDL
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 DQRD-GSKSEDELDQASTPTDV RDIDL
Mouse EQHNAGSKSVEDPDQATTPTDV RDVD
Rat EQHN-GSKSVEDPDQATTPTDV RDVD
Pig DQ-D-GSKSEDELDQASTPTDV RDID
Bovine DQGD-GSKSEDELDQASTPTDV RDID
Chicken QQSN-PSKTIEELDQASTPTDV RDIN
Xenopus laevis QQRN-SSKSVDELDQASTPTDV QDIN
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 – 289
G1/S-specific cyclin-D2
Region
264 – 289
Disordered
Compositional bias
265 – 289
Basic and acidic residues
Modified residue
271 – 271
Phosphoserine
Modified residue
280 – 280
Phosphothreonine
Alternative sequence
210 – 289
Missing. In isoform 2.
Literature citations
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Mirzaa G.M.; Parry D.A.; Fry A.E.; Giamanco K.A.; Schwartzentruber J.; Vanstone M.; Logan C.V.; Roberts N.; Johnson C.A.; Singh S.; Kholmanskikh S.S.; Adams C.; Hodge R.D.; Hevner R.F.; Bonthron D.T.; Braun K.P.; Faivre L.; Riviere J.B.; St-Onge J.; Gripp K.W.; Mancini G.M.; Pang K.; Sweeney E.; van Esch H.; Verbeek N.; Wieczorek D.; Steinraths M.; Majewski J.; Boycott K.M.; Pilz D.T.; Ross M.E.; Dobyns W.B.; Sheridan E.G.;
Nat. Genet. 46:510-515(2014)
Cited for: INVOLVEMENT IN MPPH3; VARIANTS MPPH3 ASN-280; ALA-280; ARG-281; LEU-281 AND GLY-284;
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.