UniProtKB/Swiss-Prot Q13394: Variant p.Gln233Pro

Putative nucleotidyltransferase MAB21L1
Gene: MAB21L1
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Variant information Variant position:

233 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 Glutamine (Q) to Proline (P) at position 233 (Q233P, p.Gln233Pro). 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 (Q) to medium size and hydrophobic (P) 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:

In COFG; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1566189161 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KECHSLAGKQSSAESDAWVL Q FAEAENRLQMGGCRKKCLSI 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                         KECHSLAGKQSSAESDAWVLQFAEAENRLQMGGCRKKCLSI

Mouse                         KECHSLAGKQSSAESDAWVLQFAEAENRLQMGGCRKKCLSI

Bovine                        KECHSLAGKQSSAESDAWVLQFAEAENRLQMGGCRKKCLSI

Chicken                       KECHSLAGKQSSAESDAWVLQFAEAENRLQMGGCRKKCLSI

Xenopus laevis                KECHTLAGKQSSAESDAWVLQFAEAENRLQLGGCRKKCLSL

Xenopus tropicalis            KECHTLAGKQSSAESDAWVLQFAEAENRLQLGGCRKKCLSL

Zebrafish                     KECYSLNGKQSSAESDAWVLQFAEAENRLLLGGCRKKCLSL

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 – 359	Putative nucleotidyltransferase MAB21L1
Binding site	248 – 248
Mutagenesis	247 – 247	R -> Q. Decreased protein stability.
Beta strand	230 – 233

Literature citations
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Rad A.; Altunoglu U.; Miller R.; Maroofian R.; James K.N.; Caglayan A.O.; Najafi M.; Stanley V.; Boustany R.M.; Yesil G.; Sahebzamani A.; Ercan-Sencicek G.; Saeidi K.; Wu K.; Bauer P.; Bakey Z.; Gleeson J.G.; Hauser N.; Gunel M.; Kayserili H.; Schmidts M.;
J. Med. Genet. 56:332-339(2019)
Cited for: INVOLVEMENT IN COFG; FUNCTION; VARIANTS COFG PRO-233 AND 280-TYR--LEU-359 DEL;

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.