UniProtKB/Swiss-Prot Q14566: Variant p.Glu806Lys

DNA replication licensing factor MCM6
Gene: MCM6
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Variant information Variant position:

806 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 Glutamate (E) to Lysine (K) at position 806 (E806K, p.Glu806Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Polymorphism:

Intronic variations in MCM6 upstream from the LCT gene are associated with adult-type hypolactasia [MIM:223100] leading to lactose intolerance, or with lactase persistance. Lactose intolerance is a normal physiological phenomenon caused by developmental down-regulation of lactase activity during childhood or early adulthood. A non-coding variation in MCM6 affects the transcriptional regulation of the LCT gene resulting in down-regulation of lactase activity. However, the majority of Northern Europeans and some African populations have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs4988283 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VLIELTQAGLKGSTEGSESY E EDPYLVVNPNYLLED 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                         VLIELTQAGLKGSTEGSESY--EEDPYLVVNPNYLLED---------

Mouse                         VLIELTQAGLKGSSEGSESY--EEDPYLVVNPNYLL

Bovine                        VLIELTQAGLKGSTEGSESY--EEDPYLVVNPNYLL

Caenorhabditis elegans        VLLEVEQ---------------GEDPTLCVHPNYVI

Drosophila                    VIIPLKTSTLKPRIQVQKDFVEEDDPLLVVHPNYVV

Slime mold                    SLVVL----------VPNQY--PDHRILIIHPNYSF

Baker's yeast                 ILMEIHGTRHNLRDLENEEN-ENNKTVYVIHPNCEV

Fission yeast                 IIMEIQNLT---DSAVRLPF---EERVFSIHPNCDI

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	1 – 821	DNA replication licensing factor MCM6
Modified residue	791 – 791	Phosphothreonine

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LYS-806;

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.