UniProtKB/SwissProt variant VAR

Variant information

Variant position:

990

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Histidine (H) to Leucine (L) at position 990 (H990L, p.His990Leu).

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 (H) to medium size and hydrophobic (L)

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 CONDCA; decreased tubulin deglutamylation shown by in vitro functional expression of the homologous murine variant.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1564034077 [ dbSNP | Ensembl ]

Sequence information

Variant position:

990

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1226

The length of the canonical sequence.

Location on the sequence:

RCSLSGEDLNRQWQSPSPDL H PTIYHAKGLLQYLAAVKRLP

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                         RCSLSGEDLNRQWQSPSPDLHPTIYHAKGLLQYLAAV-KRLP

Mouse                         RCSLSGEDLNRQWQSPNPELHPTIYHAKGLLQYLAAV-KRL

Chicken                       RCSLSGEDLNRQWQNPNPDLHPTIYHAKGLLQYLAAI-KRL

Xenopus laevis                RCSLSGEDLNRQWQNPNSDLHPTIYHTKGLLQYLSAI-KRV

Xenopus tropicalis            RCSLSGEDLNRQWQNPNVDLHPTIYHTKGLLQYLAAI-RRT

Zebrafish                     RCSLSGEDLNRQWQNPNAELHPTIYHAKSLLQYLRAT-GRT

Caenorhabditis elegans        RCSLAGIDLNRMWDRPNEALHPEVFATKAIIQYLCEVANKK

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 – 1226	Cytosolic carboxypeptidase 1
Active site	970 – 970	Nucleophile

Literature citations

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Shashi V.; Magiera M.M.; Klein D.; Zaki M.; Schoch K.; Rudnik-Schoeneborn S.; Norman A.; Lopes Abath Neto O.; Dusl M.; Yuan X.; Bartesaghi L.; De Marco P.; Alfares A.A.; Marom R.; Arold S.T.; Guzman-Vega F.J.; Pena L.D.; Smith E.C.; Steinlin M.; Babiker M.O.; Mohassel P.; Foley A.R.; Donkervoort S.; Kaur R.; Ghosh P.S.; Stanley V.; Musaev D.; Nava C.; Mignot C.; Keren B.; Scala M.; Tassano E.; Picco P.; Doneda P.; Fiorillo C.; Issa M.Y.; Alassiri A.; Alahmad A.; Gerard A.; Liu P.; Yang Y.; Ertl-Wagner B.; Kranz P.G.; Wentzensen I.M.; Stucka R.; Stong N.; Allen A.S.; Goldstein D.B.; Schoser B.; Roesler K.M.; Alfadhel M.; Capra V.; Chrast R.; Strom T.M.; Kamsteeg E.J.; Boennemann C.G.; Gleeson J.G.; Martini R.; Janke C.; Senderek J.;
EMBO J. 37:0-0(2018)
Cited for: VARIANTS CONDCA 330-ARG--PRO-1226 DEL; ASP-694; 788-GLN--PRO-1226 DEL; CYS-799; MET-851; 856-GLN--PRO-1226 DEL; CYS-910; TRP-918 AND LEU-990; CHARACTERIZATION OF VARIANTS CONDCA ASP-694; MET-851; 856-GLN--PRO-1226 DEL; TRP-918 AND LEU-990; INVOLVEMENT IN CONDCA; FUNCTION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UPW5: Variant p.His990Leu