UniProtKB/SwissProt variant VAR

Histone H4
Gene: H4C16
Feedback?

Variant information Variant position:

76 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 Arginine (R) at position 76 (H76R, p.His76Arg). 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 large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 TEBIVANED4; results in severe early developmental defects when expressed in zebrafish embryos. Any additional useful information about the variant.

Sequence information Variant position:

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

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

RGVLKVFLENVIRDAVTYTE H AKRKTVTAMDVVYALKRQGR 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                         RGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGR

Mouse                         RGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGR

Rat                           RGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGR

Pig                           RGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGR

Bovine                        RGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGR

Chicken                       RGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGR

Xenopus laevis                RGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGR

Xenopus tropicalis            RGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGR

Caenorhabditis elegans        RGVLKVFLENVIRDAVTYCEHAKRKTVTAMDVVYALKRQGR

Drosophila                    RGVLKVFLENVIRDAVTYTEHAKRKTVTAMDVVYALKRQGR

Slime mold                    RNVLRTFLTNVIRDSVAYTEHAGRRTVTAMDVVYALKRQGR

Baker's yeast                 RAVLKSFLESVIRDSVTYTEHAKRKTVTSLDVVYALKRQGR

Fission yeast                 RAVLKLFLENVIRDAVTYTEHAKRKTVTSLDVVYSLKRQGR

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	2 – 103	Histone H4
Modified residue	60 – 60	N6-(2-hydroxyisobutyryl)lysine; alternate
Modified residue	60 – 60	N6-glutaryllysine; alternate
Modified residue	60 – 60	N6-methacryllysine; alternate
Modified residue	78 – 78	N6-(2-hydroxyisobutyryl)lysine; alternate
Modified residue	78 – 78	N6-(beta-hydroxybutyryl)lysine; alternate
Modified residue	78 – 78	N6-butyryllysine; alternate
Modified residue	78 – 78	N6-glutaryllysine; alternate
Modified residue	78 – 78	N6-isonicotinyllysine; alternate
Modified residue	78 – 78	N6-lactoyllysine; alternate
Modified residue	78 – 78	N6-methacryllysine; alternate
Modified residue	78 – 78	N6-propionyllysine; alternate
Modified residue	78 – 78	N6-succinyllysine; alternate
Modified residue	80 – 80	N6-(2-hydroxyisobutyryl)lysine; alternate
Modified residue	80 – 80	N6-butyryllysine; alternate
Modified residue	80 – 80	N6-glutaryllysine; alternate
Modified residue	80 – 80	N6-isonicotinyllysine; alternate
Modified residue	80 – 80	N6-methacryllysine; alternate
Modified residue	80 – 80	N6-propionyllysine; alternate
Modified residue	80 – 80	N6-succinyllysine; alternate
Modified residue	81 – 81	Phosphothreonine
Modified residue	89 – 89	Phosphotyrosine
Modified residue	92 – 92	N6-(2-hydroxyisobutyryl)lysine; alternate
Modified residue	92 – 92	N6-(beta-hydroxybutyryl)lysine; alternate
Modified residue	92 – 92	N6-acetyllysine; alternate
Modified residue	92 – 92	N6-butyryllysine; alternate
Modified residue	92 – 92	N6-glutaryllysine; alternate
Modified residue	92 – 92	N6-isonicotinyllysine; alternate
Modified residue	92 – 92	N6-lactoyllysine; alternate
Modified residue	92 – 92	N6-methacryllysine; alternate
Modified residue	92 – 92	N6-propionyllysine; alternate
Modified residue	92 – 92	N6-succinyllysine; alternate
Cross	60 – 60	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Cross	80 – 80	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Cross	92 – 92	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Cross	92 – 92	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
Helix	51 – 76

Literature citations
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F.; Duran K.; Knapp K.; Fellner M.; Smithson S.; Beleza Meireles A.; Elting M.W.; Waisfisz Q.; O'Donnell-Luria A.; Nowak C.; Douglas J.; Ronan A.; Brunet T.; Kotzaeridou U.; Svihovec S.; Saenz M.S.; Thiffault I.; Del Viso F.; Devine P.; Rego S.; Tenney J.; van Haeringen A.; Ruivenkamp C.A.L.; Koene S.; Robertson S.P.; Deshpande C.; Pfundt R.; Verbeek N.; van de Kamp J.M.; Weiss J.M.M.; Ruiz A.; Gabau E.; Banne E.; Pepler A.; Bottani A.; Laurent S.; Guipponi M.; Bijlsma E.; Bruel A.L.; Sorlin A.; Willis M.; Powis Z.; Smol T.; Vincent-Delorme C.; Baralle D.; Colin E.; Revencu N.; Calpena E.; Wilkie A.O.M.; Chopra M.; Cormier-Daire V.; Keren B.; Afenjar A.; Niceta M.; Terracciano A.; Specchio N.; Tartaglia M.; Rio M.; Barcia G.; Rondeau S.; Colson C.; Bakkers J.; Mace P.D.; Bicknell L.S.; van Haaften G.;
Am. J. Hum. Genet. 109:750-758(2022)
Cited for: VARIANTS TEBIVANED1 ALA-33; LEU-33 AND GLN-92; VARIANT TEBIVANED2 CYS-41; VARIANTS TEBIVANED3 THR-32; ARG-33; TRP-36; PRO-38; CYS-41; CYS-46 AND HIS-99; VARIANTS TEBIVANED4 LEU-41 AND ARG-76; CHARACTERIZATION OF VARIANT TEBIVANED1 GLN-92; CHARACTERIZATION OF VARIANT TEBIVANED2 CYS-41; CHARACTERIZATION OF VARIANTS TEBIVANED3 THR-32; ARG-33; TRP-36; PRO-38; CYS-41 AND HIS-99; CHARACTERIZATION OF VARIANTS TEBIVANED4 LEU-41 AND ARG-76; VARIANTS HIS-41 AND ARG-95; CHARACTERIZATION OF VARIANTS HIS-41 AND ARG-95; INVOLVEMENT IN TEBIVANED1; INVOLVEMENT IN TEBIVANED2; INVOLVEMENT IN TEBIVANED3; INVOLVEMENT IN TEBIVANED4;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P62805: Variant p.His76Arg