UniProtKB/Swiss-Prot P49736: Variant p.Leu135Phe

DNA replication licensing factor MCM2
Gene: MCM2
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Variant information Variant position:

135 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 Leucine (L) to Phenylalanine (F) at position 135 (L135F, p.Leu135Phe). 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:

Change from medium size and hydrophobic (L) to large size and aromatic (F) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2307314 [ dbSNP | Ensembl ]

Sequence information Variant position:

135 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

904 The length of the canonical sequence.
Location on the sequence:

RAMRQRDREAGRGLGRMRRG L LYDSDEEDEERPARKRRQVE 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                         RAMRQRDREAGRGLGRMRRGLLY-DSDEEDEERP------------ARKRRQVE

Mouse                         RTMRQRDREAGRGLGRMRRGLLY-DSSEEDEERP-------

Xenopus laevis                QSMRMRDREMGRELGRMRRGLLY-DSDEEEEDRP-------

Xenopus tropicalis            QAMRMRDREMGHELGRMRRGLLY-DSDEEDEDRP-------

Drosophila                    SEMRRRDRAAG--IHRDDRDLGFGQSDDEDDVGP-------

Baker's yeast                 AQLNERDRLL--------RNVAYIDDEDEEQEGAAQLDEMG

Fission yeast                 ARLRRRDIELDAAAGRT-KPAAFLQDEDDDLDSNLGTG---

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 – 904	DNA replication licensing factor MCM2
Region	2 – 257	Interaction with KAT7
Region	109 – 167	Disordered
Compositional bias	109 – 158	Basic and acidic residues
Modified residue	137 – 137	Phosphotyrosine
Modified residue	139 – 139	Phosphoserine
Mutagenesis	139 – 139	S -> A. Impairs ATPase activity of the MCM-2-7 complex and reduces phosphorylation by the CDC7-DBF4 complex; when associated with A-27 and A-41.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-68; PHE-135; THR-396; MET-667 AND THR-727;

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.