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UniProtKB/Swiss-Prot P61244: Variant p.Leu102Pro

Protein max
Gene: MAX
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Variant information Variant position:

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

LP/P [Disclaimer] 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:

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
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.

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.
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.