UniProtKB/Swiss-Prot P62805: Variant p.Arg41His

Histone H4
Gene: H4C16
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Variant information Variant position:

41 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 Histidine (H) at position 41 (R41H, p.Arg41His). 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 polar (H) 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:

Found in a patient with a neurodevelopmental disorder; uncertain significance; results in early developmental defects when expressed in zebrafish embryos. Any additional useful information about the variant.

Sequence information Variant position:

41 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:

KVLRDNIQGITKPAIRRLAR R GGVKRISGLIYEETRGVLKV 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                         KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Mouse                         KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Rat                           KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Pig                           KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Bovine                        KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Chicken                       KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Xenopus laevis                KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Xenopus tropicalis            KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Caenorhabditis elegans        KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Drosophila                    KVLRDNIQGITKPAIRRLARRGGVKRISGLIYEETRGVLKV

Slime mold                    KTQKEHINGITKPAIRRLARRGGVKRISFPIYEETRNVLRT

Baker's yeast                 KILRDNIQGITKPAIRRLARRGGVKRISGLIYEEVRAVLKS

Fission yeast                 KILRDNIQGITKPAIRRLARRGGVKRISALVYEETRAVLKL

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	21 – 21	N6,N6,N6-trimethyllysine; alternate
Modified residue	21 – 21	N6,N6-dimethyllysine; alternate
Modified residue	21 – 21	N6-methyllysine; alternate
Modified residue	32 – 32	N6-(2-hydroxyisobutyryl)lysine; alternate
Modified residue	32 – 32	N6-(beta-hydroxybutyryl)lysine; alternate
Modified residue	32 – 32	N6-acetyllysine; alternate
Modified residue	32 – 32	N6-butyryllysine; alternate
Modified residue	32 – 32	N6-glutaryllysine; alternate
Modified residue	32 – 32	N6-lactoyllysine; alternate
Modified residue	32 – 32	N6-propionyllysine; alternate
Modified residue	32 – 32	N6-succinyllysine; alternate
Modified residue	45 – 45	N6-(2-hydroxyisobutyryl)lysine; alternate
Modified residue	45 – 45	N6-butyryllysine; alternate
Modified residue	45 – 45	N6-propionyllysine; alternate
Modified residue	48 – 48	Phosphoserine; by PAK2
Modified residue	52 – 52	Phosphotyrosine
Modified residue	60 – 60	N6-(2-hydroxyisobutyryl)lysine; alternate
Modified residue	60 – 60	N6-glutaryllysine; alternate
Cross	21 – 21	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Cross	32 – 32	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Cross	32 – 32	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in UFM1); alternate
Cross	60 – 60	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Mutagenesis	32 – 32	K -> R. Abolished ufmylation.
Helix	32 – 41

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.