UniProtKB/Swiss-Prot Q14154: Variant p.Ala247Thr

DAP3-binding cell death enhancer 1
Gene: DELE1
Feedback?

Variant information Variant position:

247 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 Alanine (A) to Threonine (T) at position 247 (A247T, p.Ala247Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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
Other resources:

Links to websites of interest for the variant.

Variant rs351260 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LSLEEAVTSIQQLFQLSVSI A FNFLGTENMKSGDHTAAFSY 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                         LSLEEAVTSIQQLFQLSVSIAFNFLGTENMKSGDHTAAFSY

Mouse                         LPLEEAVTSIQQLFQLSVAITFNFLGTENIKTGDYTAAFSY

Rat                           LPLEEAVTSIQQLFQLSVAIAFNFLGTENIKTGDYTAAFSY

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	102 – 515	DAP3-binding cell death enhancer 1
Chain	143 – 515	DAP3-binding cell death enhancer 1 short form
Repeat	245 – 277	TPR 2
Mutagenesis	239 – 251	LFQLSVSIAFNFL -> EFQESVSIAFNAE. Impaired oligomerization and ability to activate EIF2AK1/HRI.
Mutagenesis	239 – 239	L -> E. Impaired oligomerization.
Mutagenesis	242 – 251	LSVSIAFNFL -> ESVSIAFNAE. Impaired oligomerization and ability to activate EIF2AK1/HRI.
Mutagenesis	242 – 242	L -> E. Impaired oligomerization.
Mutagenesis	244 – 244	Missing. Impaired oligomerization and ability to activate EIF2AK1/HRI.

Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS THR-95 AND THR-247;

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.