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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P61244: Variant p.Asp23Asn

Protein max
Gene: MAX
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Variant information Variant position: help 23 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Aspartate (D) to Asparagine (N) at position 23 (D23N, p.Asp23Asn). 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: help Change from medium size and acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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

Variant description: help In PCC; uncertain significance; does not affect MYC transcriptional activity. Any additional useful information about the variant.


Sequence information Variant position: help 23 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 160 The length of the canonical sequence.
Location on the sequence: help DNDDIEVESDEEQPRFQSAA D KRAHHNALERKRRDHIKDSF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         DNDDIEVESDEE--------QPRFQSA-----ADKRAHHNALERKRRDHIKDSF

Mouse                         DNDDIEVESDEE--------QPRFQSA-----ADKRAHHNA

Rat                           DNDDIEVESDEE--------QPRFQSA-----ADKRAHHNA

Cat                           DNDDIEVESDEE--------QPRFQSA-----ADKRAHHNA

Chicken                       DNDDIEVESDEE--------QPRFQSA-----ADKRAHHNA

Xenopus laevis                DNDDIEVESDED--------SSRFPYS-----ADKRAHHNA

Zebrafish                     DNDDIEVDSDAD--------SPRFHGV-----ADKRAHHNA

Drosophila                    DDRDIDIESDEDGDSDTGLGSSRHTNTANFTQAEKRAHHNA

Sequence annotation in neighborhood: help 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
Domain 23 – 74 bHLH
Region 1 – 40 Disordered
Compositional bias 13 – 40 Basic and acidic residues
Modified residue 11 – 11 Phosphoserine



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.