Sequence information
Variant position: 94 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:
MRRKNHTHQQDIDDLKRQNA
L LEQQVRALEKARSSAQLQTN
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 MRRKNHTHQQDIDDLKRQNAL LEQQ---------------------------VRALEKARSSAQLQTN
Mouse MRRKNHTHQQDIDDLKRQNAL LEQQ----------------
Rat MRRKNHTHQQDIDDLKRQNAL LEQQ----------------
Cat MRRKNHTHQQDIDDLKRQNAL LEQQ----------------
Chicken MRRKNHTHQQDIDDLKRQNAL LEQQ----------------
Xenopus laevis MRRKNHTHQQDIDDLKRQNAL LEQQVQISNPKPPSNGAPEQ
Zebrafish MRRKNHTHQQDIDDLKRQNAL LEQQ----------------
Drosophila MRRKISENQKDIEEIKRQNNI IAKQ----------------
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
Region
81 – 102
Leucine-zipper
Modified residue
107 – 107
Phosphoserine
Alternative sequence
58 – 160
ASRAQILDKATEYIQYMRRKNHTHQQDIDDLKRQNALLEQQVRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS -> LYFLFWKLCTPVLHRQSLMQKCHTFISSYQVHKKKECKI. In isoform 5.
Alternative sequence
58 – 160
ASRAQILDKATEYIQYMRRKNHTHQQDIDDLKRQNALLEQQVRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS -> GTKMKLTLPPVFPYEHLPFPTVFCHG. In isoform 6.
Helix
60 – 100
Literature citations
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
Comino-Mendez I.; Gracia-Aznarez F.J.; Schiavi F.; Landa I.; Leandro-Garcia L.J.; Leton R.; Honrado E.; Ramos-Medina R.; Caronia D.; Pita G.; Gomez-Grana A.; de Cubas A.A.; Inglada-Perez L.; Maliszewska A.; Taschin E.; Bobisse S.; Pica G.; Loli P.; Hernandez-Lavado R.; Diaz J.A.; Gomez-Morales M.; Gonzalez-Neira A.; Roncador G.; Rodriguez-Antona C.; Benitez J.; Mannelli M.; Opocher G.; Robledo M.; Cascon A.;
Nat. Genet. 43:663-667(2011)
Cited for: INVOLVEMENT IN PCC; VARIANTS PCC ASN-23; 33-ARG--SER-160 DEL; 75-ARG--SER-160 DEL AND PRO-94; VARIANT LEU-142;
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.