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UniProtKB/Swiss-Prot P61244: Variant p.Leu102Pro

Protein max
Gene: MAX
Variant information

Variant position:  102
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Proline (P) at position 102 (L102P, p.Leu102Pro).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269|PubMed:21685915, ECO:0000269|PubMed:22452945, ECO:0000269|PubMed:26070438}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In PCC; does not repress MYC transcriptional activity.
Any additional useful information about the variant.



Sequence information

Variant position:  102
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:   QQDIDDLKRQNALLEQQVRA  L EKARSSAQLQTNYPSSDNSL
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                         QQDIDDLKRQNALLEQQ---------------------------VRALEKARSSAQLQTNYPSSDNSL

Mouse                         QQDIDDLKRQNALLEQQ------------------------

Rat                           QQDIDDLKRQNALLEQQ------------------------

Cat                           QQDIDDLKRQNALLEQQ------------------------

Chicken                       QQDIDDLKRQNALLEQQ------------------------

Xenopus laevis                QQDIDDLKRQNALLEQQVQISNPKPPSNGAPEQKNVLQLLS

Zebrafish                     QQDIDDLKRQNALLEQQ------------------------

Drosophila                    QKDIEEIKRQNNIIAKQ------------------------

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.

TypePositionsDescription
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.
Alternative sequence 99 – 160 VRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS -> GESES. In isoform 3.
Alternative sequence 99 – 160 VRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS -> GEHPSSWGSWPCCAPARSGFGTWACRVRASHGVCAQ. In isoform 4.


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.