Sequence information
Variant position: 74 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 160 The length of the canonical sequence.
Location on the sequence:
QGEKASRAQILDKATEYIQY
M RRKNHTHQQDIDDLKRQNAL
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 QGEK-----ASRAQILDKATEYIQYM RRKNHTHQQDIDDLKRQNAL
Mouse QGEK-----ASRAQILDKATEYIQYM RRKNHTHQQDIDDLK
Rat QGEK-----ASRAQILDKATEYIQYM RRKNHTHQQDIDDLK
Cat QGEK-----ASRAQILDKATEYIQYM RRKNHTHQQDIDDLK
Chicken QGEK-----ASRAQILDKATEYIQYM RRKNHTHQQDIDDLK
Xenopus laevis QGEK-----ASRAQILDKATEYIQYM RRKNHTHQQDIDDLK
Zebrafish QGEKQSIKQASRAQILDKATEYIQYM RRKNHTHQQDIDDLK
Drosophila KGEK-----ASRAQILKKTTECIQTM RRKISENQKDIEEIK
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
2 – 160
Protein max
Domain
23 – 74
bHLH
Modified residue
66 – 66
N6-acetyllysine
Alternative sequence
58 – 160
ASRAQILDKATEYIQYMRRKNHTHQQDIDDLKRQNALLEQQVRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS -> LYFLFWKLCTPVLHRQSLMQKCHTFISSYQVHKKKECKI. In isoform 5.
Alternative sequence
58 – 160
ASRAQILDKATEYIQYMRRKNHTHQQDIDDLKRQNALLEQQVRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS -> GTKMKLTLPPVFPYEHLPFPTVFCHG. In isoform 6.
Mutagenesis
66 – 66
K -> Q. Kept nuclear localization. Loss of nuclear localization; when associated with Q-153 and Q-154.
Mutagenesis
66 – 66
K -> R. Loss of acetylation, kept nuclear localization; when associated with R-153 and R-154.
Helix
60 – 100
Literature citations
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Burnichon N.; Cascon A.; Schiavi F.; Morales N.P.; Comino-Mendez I.; Abermil N.; Inglada-Perez L.; de Cubas A.A.; Amar L.; Barontini M.; de Quiros S.B.; Bertherat J.; Bignon Y.J.; Blok M.J.; Bobisse S.; Borrego S.; Castellano M.; Chanson P.; Chiara M.D.; Corssmit E.P.; Giacche M.; de Krijger R.R.; Ercolino T.; Girerd X.; Gomez-Garcia E.B.; Gomez-Grana A.; Guilhem I.; Hes F.J.; Honrado E.; Korpershoek E.; Lenders J.W.; Leton R.; Mensenkamp A.R.; Merlo A.; Mori L.; Murat A.; Pierre P.; Plouin P.F.; Prodanov T.; Quesada-Charneco M.; Qin N.; Rapizzi E.; Raymond V.; Reisch N.; Roncador G.; Ruiz-Ferrer M.; Schillo F.; Stegmann A.P.; Suarez C.; Taschin E.; Timmers H.J.; Tops C.M.; Urioste M.; Beuschlein F.; Pacak K.; Mannelli M.; Dahia P.L.; Opocher G.; Eisenhofer G.; Gimenez-Roqueplo A.P.; Robledo M.;
Clin. Cancer Res. 18:2828-2837(2012)
Cited for: VARIANTS PCC LEU-9; TRP-25; 33-ARG--SER-160 DEL; CYS-35; 47-ARG--SER-52 DEL; TRP-60; SER-71; VAL-74; 75-ARG--SER-160 DEL; 82-GLN--SER-160 DEL; PRO-90 AND PRO-102;
Functional and in silico assessment of MAX variants of unknown significance.
Comino-Mendez I.; Leandro-Garcia L.J.; Montoya G.; Inglada-Perez L.; de Cubas A.A.; Curras-Freixes M.; Tysoe C.; Izatt L.; Leton R.; Gomez-Grana A.; Mancikova V.; Apellaniz-Ruiz M.; Mannelli M.; Schiavi F.; Favier J.; Gimenez-Roqueplo A.P.; Timmers H.J.; Roncador G.; Garcia J.F.; Rodriguez-Antona C.; Robledo M.; Cascon A.;
J. Mol. Med. 93:1247-1255(2015)
Cited for: VARIANTS PCC LEU-9; ASN-23; TRP-25; 33-ARG--SER-160 DEL; CYS-35; TRP-60; SER-71; VAL-74; PRO-90; PRO-94; PRO-102 AND PRO-102; CHARACTERIZATION OF VARIANTS PCC LEU-9; ASN-23; TRP-25; 33-ARG--SER-160 DEL; CYS-35; TRP-60; SER-71; VAL-74; PRO-90; PRO-94 AND PRO-102; FUNCTION; VARIANTS THR-114 AND LEU-142; CHARACTERIZATION OF VARIANTS THR-114 AND LEU-142;
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.