UniProtKB/Swiss-Prot Q8NAG6: Variant p.Leu184Trp

Ankyrin repeat and LEM domain-containing protein 1
Gene: ANKLE1
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Variant information Variant position:

184 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 Leucine (L) to Tryptophan (W) at position 184 (L184W, p.Leu184Trp). 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 hydrophobic (L) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Other resources:

Links to websites of interest for the variant.

Variant rs2363956 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TLDSIALQKQPCRGDNRDIG L EADPGPPSLPVPLETVDKHG 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                         TLDSIALQKQPCRGD-------NRDIGLEADPGPPSLPVPLET----VDKHG

Mouse                         SFET-----ETCQGP-----ALAESSGVSQDSELHVHRAEL

Caenorhabditis elegans        SMSVSDLLLIPDRRDIKNEDVKTRGSPVKKTRGTGRSRTPE

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 – 615	Ankyrin repeat and LEM domain-containing protein 1
Region	138 – 210	Disordered

Literature citations
LEM3 is a novel LEM-domain containing protein.
Brachner A.; Foisner R.; Gotzmann J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS THR-31; VAL-71; GLN-94; TRP-184; PRO-311 AND ARG-435;

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.