UniProtKB/Swiss-Prot Q96F15: Variant p.Leu204Pro

GTPase IMAP family member 5
Gene: GIMAP5
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Variant information Variant position:

204 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 Leucine (L) to Proline (P) at position 204 (L204P, p.Leu204Pro). 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 NCPH2; uncertain significance; strong decrease in protein level. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs72650695 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YCAFNNWGSVEEQRQQQAEL L AVIERLGREREGSFHSNDLF 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                         YCAFNNWGSVEEQRQQQAELLAVIERLGREREGSFHSNDLF

Mouse                         YCAFNNRASGEEQQGQLAELMALVRRLEQECEGSFHSNDLF

Rat                           YCAFNNKASGEEQQGQLAELMALVRRLEQEHEGSFHSNDLF

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 – 307	GTPase IMAP family member 5
Topological domain	1 – 284	Cytoplasmic
Domain	25 – 228	AIG1-type G
Binding site	189 – 189
Helix	193 – 213

Literature citations
Gimap5-dependent inactivation of GSK3beta is required for CD4+ T cell homeostasis and prevention of immune pathology.
Patterson A.R.; Endale M.; Lampe K.; Aksoylar H.I.; Flagg A.; Woodgett J.R.; Hildeman D.; Jordan M.B.; Singh H.; Kucuk Z.; Bleesing J.; Hoebe K.;
Nat. Commun. 9:430-430(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT PRO-204; CHARACTERIZATION OF VARIANT PRO-204; GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension.
Drzewiecki K.; Choi J.; Brancale J.; Leney-Greene M.A.; Sari S.; Dalgic B.; Uenluesoy Aksu A.; Evirgen Sahin G.; Ozen A.; Baris S.; Karakoc-Aydiner E.; Jain D.; Kleiner D.; Schmalz M.; Radhakrishnan K.; Zhang J.; Hoebe K.; Su H.C.; Pereira J.P.; Lenardo M.J.; Lifton R.P.; Vilarinho S.;
J. Exp. Med. 218:0-0(2021)
Cited for: VARIANTS NCPH2 THR-47; LEU-109; PRO-204 AND PHE-223; INVOLVEMENT IN NCPH2;

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.