UniProtKB/Swiss-Prot Q99447: Variant p.Pro289Leu

Ethanolamine-phosphate cytidylyltransferase
Gene: PCYT2
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Variant information Variant position:

289 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 Proline (P) to Leucine (L) at position 289 (P289L, p.Pro289Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 SPG82; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1204173741 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HERTLSVLACRYVSEVVIGA P YAVTAELLSHFKVDLVCHGK 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                         HERTLSVLACRYVSEVVIGAPYAVTAELLSHFKVDLVCHGK

Mouse                         HERTLSVLACRYVSEVVIGAPYSVTAELLNHFKVDLVCHGK

Rat                           HERTLSVLACRYVSEVVIGAPYSVTAELLNHFKVDLVCHGK

Bovine                        HERTLSVLACRYVSEVVIGAPYSVTAELLDHFKVDLVCHGK

Slime mold                    HERVLSVLSCRYVDEVVIGAPFSVTKDMIDSLHINVVVHGD

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 – 389	Ethanolamine-phosphate cytidylyltransferase

Literature citations
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz F.M.; McDermott J.H.; Alders M.; Wortmann S.B.; Koelker S.; Pras-Raves M.L.; Vervaart M.A.T.; van Lenthe H.; Luyf A.C.M.; Elfrink H.L.; Metcalfe K.; Cuvertino S.; Clayton P.E.; Yarwood R.; Lowe M.P.; Lovell S.; Rogers R.C.; van Kampen A.H.C.; Ruiter J.P.N.; Wanders R.J.A.; Ferdinandusse S.; van Weeghel M.; Engelen M.; Banka S.;
Brain 142:3382-3397(2019)
Cited for: INVOLVEMENT IN SPG82; VARIANTS SPG82 TYR-226; LEU-289 AND 359-ARG--PHE-389 DEL; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;

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.