UniProtKB/SwissProt variant VAR

Variant information

Variant position:

114

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

Type of variant:

LB/B

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 Asparagine (N) to Threonine (T) at position 114 (N114T, p.Asn114Thr).

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 polar.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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:

Does not affect MYC transcriptional activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs772912674 [ dbSNP | Ensembl ]

Sequence information

Variant position:

114

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:

LLEQQVRALEKARSSAQLQT N YPSSDNSLYTNAKGSTISAF

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                         LLEQQ---------------------------VRALEKARSSAQLQTNYPSSDNSLYTNAKGSTISAF

Mouse                         LLEQQ---------------------------VRALEKARS

Rat                           LLEQQ---------------------------VRALEKARS

Cat                           LLEQQ---------------------------VRALEKARS

Chicken                       LLEQQ---------------------------VRALEKARS

Xenopus laevis                LLEQQVQISNPKPPSNGAPEQKNVLQLLSPSKVRALEKAKS

Zebrafish                     LLEQQ---------------------------VRALEKVKG

Drosophila                    IIAKQ---------------------------IQALESSNG

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	103 – 160	Disordered
Compositional bias	103 – 144	Polar residues
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

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P61244: Variant p.Asn114Thr