UniProtKB/SwissProt variant VAR

Variant information

Variant position:

573

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Serine (S) to Leucine (L) at position 573 (S573L, p.Ser573Leu).

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 polar (S) to medium size and hydrophobic (L)

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

Variant description:

In CMD1A, FPLD2 and MADA.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs60890628 [ dbSNP | Ensembl ]

Sequence information

Variant position:

573

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:

DEDEDGDDLLHHHHGSHCSS S GDPAEYNLRSRTVLCGTCGQ

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                         DEDE--DGDDLLHHHHGSH--CSSSGDPAEYNLRSRTVLCGTCGQ

Mouse                         NEDDDEDGEELLHHHRGSH--CSGSGDPAEYNLRSRTVLCG

Rat                           NDDEEEDGDELLHHHRGSH--CSSSGDPAEYNLRSRTVLCG

Pig                           DEDE--DGDDLLHHHHGSH--GSSSGDPAEYNLRSRTVLCG

Chicken                       DEDEEDDEVSIHHRHHHSG--CSGSADPAEYNLRSRTVLCG

Xenopus laevis                DDEDNDDMEHHHHHHHHHHDGQNSSGDPGEYNLRSRTIVCT

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
Region	384 – 664	Tail
Region	552 – 576	Disordered
Modified residue	568 – 568	Phosphoserine
Modified residue	571 – 571	Phosphoserine
Alternative sequence	573 – 664	Missing. In isoform C.

Literature citations

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
Taylor M.R.G.; Fain P.R.; Sinagra G.; Robinson M.L.; Robertson A.D.; Carniel E.; Di Lenarda A.; Bohlmeyer T.J.; Ferguson D.A.; Brodsky G.L.; Boucek M.M.; Lascor J.; Moss A.C.; Li W.-L.P.; Stetler G.L.; Muntoni F.; Bristow M.R.; Mestroni L.;
J. Am. Coll. Cardiol. 41:771-780(2003)
Cited for: VARIANTS CMD1A LEU-89; HIS-377 AND LEU-573;

A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
Van Esch H.; Agarwal A.K.; Debeer P.; Fryns J.-P.; Garg A.;
J. Clin. Endocrinol. Metab. 91:517-521(2006)
Cited for: VARIANT MADA LEU-573;

Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
Lanktree M.; Cao H.; Rabkin S.W.; Hanna A.; Hegele R.A.;
Clin. Genet. 71:183-186(2007)
Cited for: VARIANTS FPLD2 ASN-230; CYS-399 AND LEU-573;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02545: Variant p.Ser573Leu