UniProtKB/Swiss-Prot P02545: Variant p.Glu578Val

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

578 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 Glutamate (E) to Valine (V) at position 578 (E578V, p.Glu578Val). 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 acidic (E) to medium size and hydrophobic (V) 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 an atypical progeroid patient; diagnosed as Werner syndrome. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs61224243 [ dbSNP | Ensembl ]

Sequence information Variant position:

578 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:

GDDLLHHHHGSHCSSSGDPA E YNLRSRTVLCGTCGQPADKA 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                         GDDLLHHHHGSH--CSSSGDPAEYNLRSRTVLCGTCGQPADKA--

Mouse                         GEELLHHHRGSH--CSGSGDPAEYNLRSRTVLCGTCGQPAD

Rat                           GDELLHHHRGSH--CSSSGDPAEYNLRSRTVLCGTCGQPAD

Pig                           GDDLLHHHHGSH--GSSSGDPAEYNLRSRTVLCGTCGQPAD

Chicken                       EVSIHHRHHHSG--CSGSADPAEYNLRSRTVLCGTCGQPAD

Xenopus laevis                MEHHHHHHHHHHDGQNSSGDPGEYNLRSRTIVCTSCGRPAE

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
Modified residue	568 – 568	Phosphoserine
Modified residue	571 – 571	Phosphoserine
Cross	597 – 597	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross	597 – 597	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Alternative sequence	573 – 664	Missing. In isoform C.

Literature citations
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
Csoka A.B.; Cao H.; Sammak P.J.; Constantinescu D.; Schatten G.P.; Hegele R.A.;
J. Med. Genet. 41:304-308(2004)
Cited for: VARIANT HGPS CYS-644; VARIANTS ILE-10 AND VAL-578;

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.