UniProtKB/Swiss-Prot Q569K4: Variant p.Phe416Tyr

Zinc finger protein 385B
Gene: ZNF385B
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Variant information Variant position:

416 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Phenylalanine (F) to Tyrosine (Y) at position 416 (F416Y, p.Phe416Tyr). 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 large size and aromatic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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

Sequence information Variant position:

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

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

SILAAKLAFQKDMMKPLAPA F LSSPLAAAAAVSSALSLPPR 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                         SILAAKLAFQKDMMKPLAPAFLSSPLAAAAAVSSALSLPPR

Mouse                         SILAAKLAFQKDLMKPLAPTFLSSPL-AAAAVSSALSLPPR

Zebrafish                     SSLAAKLALQNDLVKPISPAFLPSPF--STTTVPSISLHPR

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 – 471	Zinc finger protein 385B
Region	94 – 471	Interaction with p53/TP53
Alternative sequence	369 – 471	Missing. In isoform 4.
Alternative sequence	407 – 471	Missing. In isoform 5.

Literature citations
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann M.; Kakar N.; Tayebi N.; Leettola C.; Nuernberg G.; Sowada N.; Lupianez D.G.; Harabula I.; Floettmann R.; Horn D.; Chan W.L.; Wittler L.; Yilmaz R.; Altmueller J.; Thiele H.; van Bokhoven H.; Schwartz C.E.; Nuernberg P.; Bowie J.U.; Ahmad J.; Kubisch C.; Mundlos S.; Borck G.;
Genome Res. 26:183-191(2016)
Cited for: VARIANT TYR-416;

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.