UniProtKB/Swiss-Prot Q13813: Variant p.Ile1300Thr

Spectrin alpha chain, non-erythrocytic 1
Gene: SPTAN1
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Variant information Variant position:

1300 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 Isoleucine (I) to Threonine (T) at position 1300 (I1300T, p.Ile1300Thr). 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 (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 rs1048236 [ dbSNP | Ensembl ]

Sequence information Variant position:

1300 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2472 The length of the canonical sequence.
Location on the sequence:

RDLAALGDKVNSLGETAERL I QSHPESAEDLQEKCTELNQA 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                         RDLAALGDKVNSLGETAERLIQSHPESAEDLQEKCTELNQA

Mouse                         RDLAALGDKVNSLGETAQRLIQSHPESAEDLKEKCTELNQA

Rat                           RDLAALGDKVNSLGETAQRLIQSHPESAEDLKEKCTELNQA

Chicken                       RDLAALGDKVNSLGETAQRLIQSHPELAEDLQEKCTELNQA

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 – 2472	Spectrin alpha chain, non-erythrocytic 1
Repeat	1233 – 1336	Spectrin 11
Modified residue	1291 – 1291	Phosphoserine
Modified residue	1306 – 1306	Phosphoserine

Literature citations
Generation of diversity in nonerythroid spectrins. Multiple polypeptides are predicted by sequence analysis of cDNAs encompassing the coding region of human nonerythroid alpha-spectrin.
Moon R.T.; McMahon A.P.;
J. Biol. Chem. 265:4427-4433(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-1300; Structure and evolution of a non-erythroid spectrin, human alpha-fodrin.
McMahon A.P.; Moon R.T.;
Biochem. Soc. Trans. 15:804-807(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 676-1595 (ISOFORM 1); VARIANT THR-1300; cDNA cloning, sequencing and chromosome mapping of a non-erythroid spectrin, human alpha-fodrin.
McMahon A.P.; Giebelhaus D.H.; Champion J.E.; Bailes J.A.; Lacey S.; Carritt B.; Henchman S.K.; Moon R.T.;
Differentiation 34:68-78(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 676-1595 (ISOFORM 1); VARIANT THR-1300;

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.