Variant position: 103 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 913 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 SSTPPLQPRDSASPSTSSFC LGVSVAASSHVPIQKKLRFED
Mouse STPP--QPRDSASPSTSSFC LGVPVATSSHVPIQKKLRFED
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
1 – 913 Cullin-4B
100 – 100 Phosphoserine
1 – 196 Missing. In isoform 3.
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Tarpey P.S.; Raymond F.L.; O'Meara S.; Edkins S.; Teague J.; Butler A.; Dicks E.; Stevens C.; Tofts C.; Avis T.; Barthorpe S.; Buck G.; Cole J.; Gray K.; Halliday K.; Harrison R.; Hills K.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Varian J.; West S.; Widaa S.; Mallya U.; Moon J.; Luo Y.; Holder S.; Smithson S.F.; Hurst J.A.; Clayton-Smith J.; Kerr B.; Boyle J.; Shaw M.; Vandeleur L.; Rodriguez J.; Slaugh R.; Easton D.F.; Wooster R.; Bobrow M.; Srivastava A.K.; Stevenson R.E.; Schwartz C.E.; Turner G.; Gecz J.; Futreal P.A.; Stratton M.R.; Partington M.;
Am. J. Hum. Genet. 80:345-352(2007)
Cited for: VARIANTS MRXS15 ILE-213; CYS-572 AND ALA-745; VARIANT PRO-103;
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