UniProtKB/Swiss-Prot Q9UJA3: Variant p.Glu341Lys

DNA helicase MCM8
Gene: MCM8
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Variant information Variant position:

341 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 341 (E341K, p.Glu341Lys). 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
Variant description:

Decreases the formation of MRE11 and RPA1 foci in response to cisplatin-induced DNA damage. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs16991615 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DSCVPGDTVTITGIVKVSNA E EGSRNKNDKCMFLLYIEANS 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                         DSCVPGDTVTITGIVKVSNAEEG-SRNKNDKCMFLLYIEANS

Mouse                         DSCVPGDTVTVTGIVKVSNSEEG-SRNKNDKCMFLLYIEAN

Rat                           DSCVPGDTVTVTGIVKVSNSEEG-SRSKNDKCMFLLYIEAN

Bovine                        DSCVPGDTVTITGVVKVSNAE-----------------EAN

Chicken                       DSCVPGDVVTITGVVKVSSTEEGASKNKNDKCVFLLYIEAN

Xenopus laevis                DSCVPGDMITVTGIVKVSNTRDGGFKNKNNKCMFLLYIEAN

Xenopus tropicalis            DSCVPGDMVTVTGIVKVSNTRDGGFKNKNNKCMFLLYIEAN

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 – 840	DNA helicase MCM8
Turn	341 – 344

Literature citations
MCM8-9 complex promotes resection of double-strand break ends by MRE11-RAD50-NBS1 complex.
Lee K.Y.; Im J.S.; Shibata E.; Park J.; Handa N.; Kowalczykowski S.C.; Dutta A.;
Nat. Commun. 6:7744-7744(2015)
Cited for: FUNCTION; CATALYTIC ACTIVITY; INTERACTION WITH THE MRN COMPLEX; SUBCELLULAR LOCATION; MUTAGENESIS OF PRO-456; CHARACTERIZATION OF VARIANT LYS-341;

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.