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UniProtKB/Swiss-Prot Q8TEQ6: Variant p.Asp704Glu

Gem-associated protein 5
Gene: GEMIN5
Variant information

Variant position:  704
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 Aspartate (D) to Glutamate (E) at position 704 (D704E, p.Asp704Glu).
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 acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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 NEDCAM; unknown pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  704
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1508
The length of the canonical sequence.

Location on the sequence:   RLLCVAWSPLDPDCIYSGAD  D FCVHKWLTSMQDHSRPPQGK
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                         RLLCVAWSPLDPDCIYSGADDFCVHKWLTSMQDHSRPPQGK

Mouse                         RLLCVAWSPVDPECIYSGADDFCVYRWLTSMQDHSRPPQGK

Slime mold                    RVFTVCWSLLDPNLLVSGGEDQTVRLW-----NYSTQP---

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.

TypePositionsDescription
Chain 1 – 1508 Gem-associated protein 5
Repeat 680 – 720 WD 13
Site 684 – 684 Interaction with U4 snRNA and with the 7-methylguanosine cap of RNA molecules
Mutagenesis 684 – 684 R -> A. Abolishes interaction with the isolated 7-methylguanosine cap that is normally part of RNA molecules.


Literature citations

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S.; Rajan D.S.; Fortuna T.R.; Anderson E.N.; Ward C.; Lee Y.; Lee S.; Shin Y.B.; Chae J.H.; Choi M.; Siquier K.; Cantagrel V.; Amiel J.; Stolerman E.S.; Barnett S.S.; Cousin M.A.; Castro D.; McDonald K.; Kirmse B.; Nemeth A.H.; Rajasundaram D.; Innes A.M.; Lynch D.; Frosk P.; Collins A.; Gibbons M.; Yang M.; Desguerre I.; Boddaert N.; Gitiaux C.; Rydning S.L.; Selmer K.K.; Urreizti R.; Garcia-Oguiza A.; Osorio A.N.; Verdura E.; Pujol A.; McCurry H.R.; Landers J.E.; Agnihotri S.; Andriescu E.C.; Moody S.B.; Phornphutkul C.; Sacoto M.J.G.; Begtrup A.; Houlden H.; Kirschner J.; Schorling D.; Rudnik-Schoeneborn S.; Strom T.M.; Leiz S.; Juliette K.; Richardson R.; Yang Y.; Zhang Y.; Wang M.; Wang J.; Wang X.; Platzer K.; Donkervoort S.; Boennemann C.G.; Wagner M.; Issa M.Y.; Elbendary H.M.; Stanley V.; Maroofian R.; Gleeson J.G.; Zaki M.S.; Senderek J.; Pandey U.B.;
Nat. Commun. 12:2558-2558(2021)
Cited for: VARIANTS NEDCAM PRO-73; 94-TRP--MET-1508 DEL; ARG-105; ARG-162; TYR-210; 252-ARG--MET-1508 DEL; 534-TYR--MET-1508 DEL; MET-611; GLU-704; ARG-913; PRO-923; PHE-925; HIS-958; PHE-988; PRO-1000; THR-1007; GLU-1019; PRO-1068; SER-1119; HIS-1282; ASN-1286; CYS-1286; PRO-1364 AND PRO-1367; INVOLVEMENT IN NEDCAM; CHARACTERIZATION OF VARIANTS NEDCAM ARG-913 AND PRO-1068; FUNCTION; INTERACTION WITH DDX20 AND GEMIN4;

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.