UniProtKB/Swiss-Prot O60313: Variant p.Ser158Asn

Dynamin-like GTPase OPA1, mitochondrial
Gene: OPA1
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Variant information Variant position:

158 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 Serine (S) to Asparagine (N) at position 158 (S158N, p.Ser158Asn). 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 polar (N) 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 rs7624750 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DIVWEIDEYIDFEKIRKALP S SEDLVKLAPDFDKIVESLSL 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                         DIVWEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSL

Mouse                         DFIWEIDEYIDLEKIRKALPSSEDLASLAPDLDKITESLSL

Rat                           DFIWEIDEYIDLEKIRKALPSSEDLANFAPDLDKIAESLSL

Chicken                       DFIWELDEHIDLEKLIKALPDADDLAKLLPDFEKIGESFTS

Zebrafish                     DFVWELSENIDLDKLASALPELEEIAKLLPDMEKIGENFTF

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	88 – 960	Dynamin-like GTPase OPA1, long form
Topological domain	114 – 770	Mitochondrial intermembrane
Alternative sequence	150 – 185	Missing. In isoform 3 and isoform 7.

Literature citations
Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Nagase T.; Ishikawa K.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 5:31-39(1998)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ASN-158; 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); VARIANT ASN-158; OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
Pesch U.E.A.; Leo-Kottler B.; Mayer S.; Jurklies B.; Kellner U.; Apfelstedt-Sylla E.; Zrenner E.; Alexander C.; Wissinger B.;
Hum. Mol. Genet. 10:1359-1368(2001)
Cited for: VARIANTS OPA1 LYS-270; ALA-273; GLN-290; TRP-290; VAL-438; GLU-468; CYS-551 DEL AND ARG-785; VARIANTS ASN-158; VAL-192 AND ASN-550; Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Toomes C.; Marchbank N.J.; Mackey D.A.; Craig J.E.; Newbury-Ecob R.A.; Bennett C.P.; Vize C.J.; Desai S.P.; Black G.C.M.; Patel N.; Teimory M.; Markham A.F.; Inglehearn C.F.; Churchill A.J.;
Hum. Mol. Genet. 10:1369-1378(2001)
Cited for: VARIANTS OPA1 GLN-290; GLU-300; PHE-384; LYS-503 AND ASN-505; VARIANTS ASN-158 AND GLY-907; A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
Thiselton D.L.; Alexander C.; Taanman J.-W.; Brooks S.; Rosenberg T.; Eiberg H.; Andreasson S.; Van Regemorter N.; Munier F.L.; Moore A.T.; Bhattacharya S.S.; Votruba M.;
Invest. Ophthalmol. Vis. Sci. 43:1715-1724(2002)
Cited for: VARIANTS OPA1 38-ARG--SER-43 DEL; 586-ARG--ASP-589 DEL; ARG-396; ILE-432 DEL; LYS-503 AND HIS-571; VARIANTS ASN-158; LEU-167 AND VAL-192; Dominant optic atrophy: correlation between clinical and molecular genetic studies.
Puomila A.; Huoponen K.; Maentyjaervi M.; Haemaelaeinen P.; Paananen R.; Sankila E.-M.; Savontaus M.-L.; Somer M.; Nikoskelainen E.;
Acta Ophthalmol. Scand. 83:337-346(2005)
Cited for: VARIANTS OPA1 324-ARG--PRO-326 DEL; TRP-590 AND LYS-728; VARIANT ASN-158; OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.
Han J.; Thompson-Lowrey A.J.; Reiss A.; Mayorov V.; Jia H.; Biousse V.; Newman N.J.; Brown M.D.;
Genet. Med. 8:217-225(2006)
Cited for: VARIANTS OPA1 SER-8; CYS-80 AND CYS-841; VARIANTS ASN-158 AND VAL-192;

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.