UniProtKB/Swiss-Prot P51814: Variant p.Pro153Leu

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 153 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 Proline (P) to Leucine (L) at position 153 (P153L, p.Pro153Leu). 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 medium size and hydrophobic. 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
Variant description: Found in patients with X-linked intellectual disability; uncertain significance. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs104894955 [ dbSNP | Ensembl ]

Sequence information

Variant position: 153 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 821 The length of the canonical sequence.
Location on the sequence: EAPHQSCSGEAIGKMQQQGI P GGIFFHCERFDQPIGEDSLC 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.
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 – 821	Zinc finger protein 41
Alternative sequence	141 – 176	Missing. In isoform 7 and isoform 8.

Literature citations

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
Shoichet S.A.; Hoffmann K.; Menzel C.; Trautmann U.; Moser B.; Hoeltzenbein M.; Echenne B.; Partington M.; Van Bokhoven H.; Moraine C.; Fryns J.-P.; Chelly J.; Rott H.-D.; Ropers H.-H.; Kalscheuer V.M.;
Am. J. Hum. Genet. 73:1341-1354(2003)
Cited for: ALTERNATIVE SPLICING; TISSUE SPECIFICITY; CHROMOSOMAL TRANSLOCATION; VARIANTS LEU-153; ARG-167 AND GLU-357; POSSIBLE ASSOCIATION OF VARIANT LEU-153 WITH X-LINKED INTELLECTUAL DISABILITY; XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A.; Redin C.; Mandel J.L.;
Am. J. Hum. Genet. 93:368-383(2013)
Cited for: LACK OF ASSOCIATION OF VARIANT LEU-153 WITH X-LINKED INTELLECTUAL DISABILITY;