UniProtKB/Swiss-Prot Q5TA45: Variant p.Arg17Leu

Integrator complex subunit 11
Gene: INTS11
Feedback?

Variant information Variant position:

17 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 Arginine (R) to Leucine (L) at position 17 (R17L, p.Arg17Leu). 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 large size and basic (R) to medium size and hydrophobic (L) 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 NEDMLOB; uncertain significance; may affect function; orthologous mutation in Ints11-null Drosophila is unable to rescue larvae lethality. Any additional useful information about the variant.

Sequence information Variant position:

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

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

MPEIRVTPLGAGQDVG R SCILVSIAGKNVMLDCGMHM 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                         MPEIRVTPLGAGQDVGRSCILVSIAGKNVMLDCGMHM

Mouse                         MPEIRVTPLGAGQDVGRSCILVSISGKNVMLDCGMHM

Rat                           MPEIRVTPLGAGQDVGRSCILVSISGKNVMLDCGMHM

Bovine                        MPEIRVTPLGAGQDVGRSCILVSIAGKNVMLDCGMHM

Chicken                       MPEIKVTPLGAGQDVGRSCILVSIAGKNVMLDCGMHM

Zebrafish                     MPDIKVTPLGAGQDVGRSCILVSIGGKNIMLDCGMHM

Drosophila                    MPDIKITPLGAGQDVGRSCLLLSMGGKNIMLDCGMHM

Slime mold                    -MTIKVVPLGAGQDVGRSCVIVTIGNKNIMFDCGMHM

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 – 600	Integrator complex subunit 11
Alternative sequence	1 – 29	Missing. In isoform 4.
Beta strand	3 – 17

Literature citations
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B.; Macke E.L.; Niceta M.; Weisz Hubshman M.; Kanca O.; Schultz-Rogers L.; Zarate Y.A.; Schaefer G.B.; Granadillo De Luque J.L.; Wegner D.J.; Cogne B.; Gilbert-Dussardier B.; Le Guillou X.; Wagner E.J.; Pais L.S.; Neil J.E.; Mochida G.H.; Walsh C.A.; Magal N.; Drasinover V.; Shohat M.; Schwab T.; Schmitz C.; Clark K.; Fine A.; Lanpher B.; Gavrilova R.; Blanc P.; Burglen L.; Afenjar A.; Steel D.; Kurian M.A.; Prabhakar P.; Goesswein S.; Di Donato N.; Bertini E.S.; Wangler M.F.; Yamamoto S.; Tartaglia M.; Klee E.W.; Bellen H.J.;
Am. J. Hum. Genet. 110:774-789(2023)
Cited for: VARIANTS NEDMLOB SER-12; LEU-17; SER-39; SER-55; PHE-138; TRP-217; GLY-218; GLN-219; GLU-396; SER-407; TYR-414; MET-515; GLU-551 AND CYS-578; INVOLVEMENT IN NEDMLOB; CHARACTERIZATION OF VARIANTS NEDMLOB LEU-17; SER-55; PHE-138; GLU-396; TYR-414 AND MET-515;

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.