Sequence information
Variant position: 425 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 526 The length of the canonical sequence.
Location on the sequence:
SLIPSTGLCSPDLVNRIIKQ
E PVLENCSQDLLQHHADLTCT
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 SLIPSTGLCSPDLVNRIIKQE PVLENCSQDLLQHHADLTCT
Mouse SLIPSTGLCSPDLVNRIIKQE PVLENCSQELVQHQADLTCT
Rat SLIPSTGLCSPDLVNRIIKQE PVLENCSQELVQHQADLTCT
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 – 526
Microphthalmia-associated transcription factor
Region
401 – 431
DNA-binding regulation
Modified residue
405 – 405
Phosphoserine; by GSK3
Modified residue
414 – 414
Phosphoserine
Cross
423 – 423
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Mutagenesis
405 – 405
S -> AP. Loss of phosphorylation and function.
Mutagenesis
423 – 423
K -> R. Loss of sumoylation; when associated with R-289.
Literature citations
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
Castro-Vega L.J.; Kiando S.R.; Burnichon N.; Buffet A.; Amar L.; Simian C.; Berdelou A.; Galan P.; Schlumberger M.; Bouatia-Naji N.; Favier J.; Bressac-de Paillerets B.; Gimenez-Roqueplo A.P.;
J. Clin. Endocrinol. Metab. 101:4764-4768(2016)
Cited for: INVOLVEMENT IN DISEASE; VARIANT LYS-425;
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C.; Lesueur F.; Giuliano S.; Strub T.; de Lichy M.; Bille K.; Dessen P.; d'Hayer B.; Mohamdi H.; Remenieras A.; Maubec E.; de la Fouchardiere A.; Molinie V.; Vabres P.; Dalle S.; Poulalhon N.; Martin-Denavit T.; Thomas L.; Andry-Benzaquen P.; Dupin N.; Boitier F.; Rossi A.; Perrot J.L.; Labeille B.; Robert C.; Escudier B.; Caron O.; Brugieres L.; Saule S.; Gardie B.; Gad S.; Richard S.; Couturier J.; Teh B.T.; Ghiorzo P.; Pastorino L.; Puig S.; Badenas C.; Olsson H.; Ingvar C.; Rouleau E.; Lidereau R.; Bahadoran P.; Vielh P.; Corda E.; Blanche H.; Zelenika D.; Galan P.; Aubin F.; Bachollet B.; Becuwe C.; Berthet P.; Bignon Y.J.; Bonadona V.; Bonafe J.L.; Bonnet-Dupeyron M.N.; Cambazard F.; Chevrant-Breton J.; Coupier I.; Dalac S.; Demange L.; d'Incan M.; Dugast C.; Faivre L.; Vincent-Fetita L.; Gauthier-Villars M.; Gilbert B.; Grange F.; Grob J.J.; Humbert P.; Janin N.; Joly P.; Kerob D.; Lasset C.; Leroux D.; Levang J.; Limacher J.M.; Livideanu C.; Longy M.; Lortholary A.; Stoppa-Lyonnet D.; Mansard S.; Mansuy L.; Marrou K.; Mateus C.; Maugard C.; Meyer N.; Nogues C.; Souteyrand P.; Venat-Bouvet L.; Zattara H.; Chaudru V.; Lenoir G.M.; Lathrop M.; Davidson I.; Avril M.F.; Demenais F.; Ballotti R.; Bressac-de Paillerets B.;
Nature 480:94-98(2011)
Cited for: INVOLVEMENT IN CMM8; VARIANT CMM8 LYS-425;
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
Yokoyama S.; Woods S.L.; Boyle G.M.; Aoude L.G.; MacGregor S.; Zismann V.; Gartside M.; Cust A.E.; Haq R.; Harland M.; Taylor J.C.; Duffy D.L.; Holohan K.; Dutton-Regester K.; Palmer J.M.; Bonazzi V.; Stark M.S.; Symmons J.; Law M.H.; Schmidt C.; Lanagan C.; O'Connor L.; Holland E.A.; Schmid H.; Maskiell J.A.; Jetann J.; Ferguson M.; Jenkins M.A.; Kefford R.F.; Giles G.G.; Armstrong B.K.; Aitken J.F.; Hopper J.L.; Whiteman D.C.; Pharoah P.D.; Easton D.F.; Dunning A.M.; Newton-Bishop J.A.; Montgomery G.W.; Martin N.G.; Mann G.J.; Bishop D.T.; Tsao H.; Trent J.M.; Fisher D.E.; Hayward N.K.; Brown K.M.;
Nature 480:99-103(2011)
Cited for: INVOLVEMENT IN CMM8; VARIANT CMM8 LYS-425; CHARACTERIZATION OF VARIANT CMM8 LYS-425;
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.