UniProtKB/Swiss-Prot Q14566: Variant p.Asp202Gly

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

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

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:

From Aspartate (D) to Glycine (G) at position 202 (D202G, p.Asp202Gly). 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 (D) to glycine (G) 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
Variant description:

Found in a patient with intra-uterine growth restriction, developmental delay and autism spectrum disorder; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

202 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:

NPVCANRRRFLLDTNKSRFV D FQKVRIQETQAELPRGSIPR 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                         NPVCANRRRFLLDTNKSRFVDFQKVRIQETQAELPRGSIPR

Mouse                         NPVCANRKRFLLDTNKSRFVDFQKVRIQETQAELPRGSIPR

Bovine                        NPVCANRRRFLLDTNKSRFVDFQKVRIQETQAELPRGSIPR

Caenorhabditis elegans        NPQCMNRTRFSLDVNSSTFVDFQKIRIQETQAELPRGSIPR

Drosophila                    NPVCSNRKRFMLDVEKSLFLDFQKIRIQETQAELPRGCIPR

Slime mold                    NPLCSNQRRWKINLEESTFTDWQKVRVQENNSEIPGGSVPR

Baker's yeast                 NPSCENRAFWTLNVTRSRFLDWQKVRIQENANEIPTGSMPR

Fission yeast                 NELCANKRSWRLNISQSSFQDWQKVRIQENSNEIPTGSMPR

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	219 – 219	Phosphoserine
Beta strand	200 – 209

Literature citations
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Smits D.J.; Schot R.; Popescu C.A.; Dias K.R.; Ades L.; Briere L.C.; Sweetser D.A.; Kushima I.; Aleksic B.; Khan S.; Karageorgou V.; Ordonez N.; Sleutels F.J.G.T.; van der Kaay D.C.M.; Van Mol C.; Van Esch H.; Bertoli-Avella A.M.; Roscioli T.; Mancini G.M.S.;
Hum. Genet. 0:0-0(2023)
Cited for: VARIANTS SER-149; TYR-158; GLY-202 AND SER-239; CHARACTERIZATION OF VARIANT TYR-158;

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.