Variant position: 382 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 906 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 KVTQEQYELYCEMGSTFQLC KICAENDKDVKIEPCGHLMCT
Mouse KVTQEQYELYCEMGSTFQLC KICAENDKDVKIEPCGHLMCT
Fission yeast --------------SALDMI LRCCKSNSHV---VAGHDLYG
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 – 906 E3 ubiquitin-protein ligase CBL
381 – 420 RING-type
357 – 476 Asp/Glu-rich (acidic)
371 – 371 Phosphotyrosine; by INSR
371 – 371 Y -> F. Strongly reduces tyrosine phosphorylation by INSR; when associated with F-700 and F-774.
381 – 381 C -> A. Loss of ubiquitin ligase activity.
382 – 384
RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR.
Brand K.; Kentsch H.; Glashoff C.; Rosenberger G.;
Hum. Mutat. 35:1372-1381(2014)
Cited for: CHARACTERIZATION OF VARIANTS NSLL GLU-382; TYR-390 AND GLN-420;
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Martinelli S.; De Luca A.; Stellacci E.; Rossi C.; Checquolo S.; Lepri F.; Caputo V.; Silvano M.; Buscherini F.; Consoli F.; Ferrara G.; Digilio M.C.; Cavaliere M.L.; van Hagen J.M.; Zampino G.; van der Burgt I.; Ferrero G.B.; Mazzanti L.; Screpanti I.; Yntema H.G.; Nillesen W.M.; Savarirayan R.; Zenker M.; Dallapiccola B.; Gelb B.D.; Tartaglia M.;
Am. J. Hum. Genet. 87:250-257(2010)
Cited for: VARIANTS NSLL PRO-367; GLU-382; TYR-390 AND GLN-420; CHARACTERIZATION OF VARIANTS NSLL TYR-390 AND GLN-420;
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.