UniProtKB/Swiss-Prot P02545: Variant p.Thr488Pro

Prelamin-A/C
Gene: LMNA
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Variant information Variant position:

488 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 Threonine (T) to Proline (P) at position 488 (T488P, p.Thr488Pro). 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 polar (T) to medium size and hydrophobic (P) 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
Variant description:

Found in patient with atrial fibrillation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs267607607 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QIKRQNGDDPLLTYRFPPKF T LKAGQVVTIWAAGAGATHSP 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                         QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSP

Mouse                         QIRRQNGDDPLMTYRFPPKFTLKAGQVVTIWASGAGATHSP

Rat                           QIKRQNGDDPLMTYRFPPKFTLKAGQVVTIWASGAGATHSP

Pig                           QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSP

Chicken                       QVKRQNGDDPPLTYRFPPKFTLKAGQAVTIWASGAGATHSP

Xenopus laevis                QIKRQIGDETPIVYKFPPRLTLKAGQTVTIWASGAGATNSP

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 – 661	Prelamin-A/C
Chain	1 – 646	Lamin-A/C
Domain	428 – 545	LTD
Region	384 – 664	Tail
Modified residue	486 – 486	N6-acetyllysine
Modified residue	496 – 496	Phosphothreonine
Modified residue	505 – 505	Phosphothreonine
Cross	470 – 470	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross	486 – 486	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)

Literature citations
Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.
Brauch K.M.; Chen L.Y.; Olson T.M.;
Am. J. Cardiol. 103:1426-1428(2009)
Cited for: VARIANTS SER-125; ILE-415 AND PRO-488;

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.