UniProtKB/Swiss-Prot Q14566: Variant p.Cys158Tyr

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

158 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 Cysteine (C) to Tyrosine (Y) at position 158 (C158Y, p.Cys158Tyr). 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 polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 patients with microcephaly, developmental delay, typical facial characteristics, endocrine disorders, feeding difficulties and urogenital anomalies; uncertain significance; impairs cell proliferation and ciliogenesis. Any additional useful information about the variant.

Sequence information Variant position:

158 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:

SGQVVRTHPVHPELVSGTFL C LDCQTVIRDVEQQFKYTQPN 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                         SGQVVRTHPVHPELVSGTFLCLDCQTVIRDVEQQFKYTQPN

Mouse                         SGQVVRTHPVHPELVSGTFLCLDCQTVIKDVEQQFKYTQPN

Bovine                        SGQVVRTHPVHPELVSGTFLCLDCQTVIKDVEQQFKYTQPN

Caenorhabditis elegans        AGQIVRTHPVHPELSRACFVCEDCGVTTRDVQQQFRYTQPT

Drosophila                    SGQVVRTHPVHPELVSGVFMCLDCQTEIRNVEQQFKFTNPT

Slime mold                    SGTVTRTSEVRPELVIGSFICKDCNTSSLPIAQQFKYTEPT

Baker's yeast                 SGTVTRTSEVRPELYKASFTCDMCRAIVDNVEQSFKYTEPT

Fission yeast                 TGTVTRTSEVRPELAQGTFICEECHTVVSNVEQAFRYTEPT

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
Beta strand	148 – 158

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.