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UniProtKB/Swiss-Prot B2RXF5: Variant p.Arg397His

Zinc finger and BTB domain-containing protein 42
Gene: ZBTB42
Variant information

Variant position:  397
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 Arginine (R) to Histidine (H) at position 397 (R397H, p.Arg397His).
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:  In LCCS6; loss of function mutation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  397
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  422
The length of the canonical sequence.

Location on the sequence:   LSRHTVVHTREKPHACRWCE  R RFTQSGDLYRHVRKFHCGLV
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                         LSRHTVVHTREKPHACRWCERRFTQSGDLYRHVRKFHCGLV

Mouse                         LSRHAVVHTREKPHACRWCERRFTQSGDLYRHVRKFHYGLV

Rat                           LSRHAVVHTREKPHACRWCERRFTQSGDLYRHVRKFHYGLV

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 – 422 Zinc finger and BTB domain-containing protein 42
Zinc finger 390 – 413 C2H2-type 4


Literature citations

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
Patel N.; Smith L.L.; Faqeih E.; Mohamed J.; Gupta V.A.; Alkuraya F.S.;
Hum. Mol. Genet. 23:6584-6593(2014)
Cited for: INVOLVEMENT IN LCCS6; VARIANT LCCS6 HIS-397; CHARACTERIZATION OF VARIANT LCCS6 HIS-397;

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.