UniProtKB/Swiss-Prot A6NKF1: Variant p.Leu155Arg

SAC3 domain-containing protein 1
Gene: SAC3D1
Feedback?

Variant information Variant position:

155 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 Arginine (R) at position 155 (L155R, p.Leu155Arg). 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 basic (R) 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
Polymorphism:

A single nucleotide deletion in the N-terminal region of the protein leads to production of a shorter protein starting at Met-47 which matches the reference genome (GRCh38/hg38) but is likely to be the minor allele. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs12271134 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SADIARAEVASFVADRLRAV L LDLALQGAGDAEAAVVLEAA 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                         SADIARAEVASFVADRLRAVLLDLALQGAGDAEAAVVLEAA

Mouse                         RGDVSCAEVASFVADRLRAVRLDLSLQGVDDADAATVLEAA

Fission yeast                 GPD-PLENTHFFVRDRTRSIRQDFTLQNCRDLDAVACHERI

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 – 404	SAC3 domain-containing protein 1

Literature citations
Large-scale concatenation cDNA sequencing.
Yu W.; Andersson B.; Worley K.C.; Muzny D.M.; Ding Y.; Liu W.; Ricafrente J.Y.; Wentland M.A.; Lennon G.; Gibbs R.A.;
Genome Res. 7:353-358(1997)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANTS PRO-8 AND ARG-155; 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] (ISOFORM 1); VARIANTS PRO-8 AND ARG-155;

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.