Sequence information
Variant position: 420 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 561 The length of the canonical sequence.
Location on the sequence:
AVLPRPEKPQLPHLQRSPPD
G QSFRSFSFEKPRQPSQADTG
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 AVLPRPEKPQLPHLQRSPPDG QSFRSFSFEKPRQPSQADTG
Mouse AVLPRPENTPLPHLQRSPPDG QSFRGFSFEKARQPSQADTG
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 – 561
SH3 domain-binding protein 2
Modified residue
416 – 416
Phosphoserine
Modified residue
427 – 427
Phosphoserine
Alternative sequence
98 – 561
Missing. In isoform 2.
Literature citations
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Ueki Y.; Tiziani V.; Santanna C.; Fukai N.; Maulik C.; Garfinkle J.; Ninomiya C.; doAmaral C.; Peters H.; Habal M.; Rhee-Morris L.; Doss J.B.; Kreiborg S.; Olsen B.R.; Reichenberger E.;
Nat. Genet. 28:125-126(2001)
Cited for: VARIANTS CRBM GLN-415; PRO-415; ARG-418; HIS-418; LEU-418; ARG-420 AND GLU-420;
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.
Lo B.; Faiyaz-Ul-Haque M.; Kennedy S.; Aviv R.; Tsui L.-C.; Teebi A.S.;
Am. J. Med. Genet. A 121:37-40(2003)
Cited for: VARIANT CRBM ARG-420;
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.