UniProtKB/Swiss-Prot Q9UBX5: Variant p.Val126Met

Fibulin-5
Gene: FBLN5
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Variant information Variant position:

126 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 Valine (V) to Methionine (M) at position 126 (V126M, p.Val126Met). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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:

No effect on secretion; slightly increases homodimerization in absence of Ca(2+). Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs61734479 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TISRPLICRFGYQMDESNQC V DVDECATDSHQCNPTQICIN 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                         TISRPLICRFGYQMDESNQCVDVDECATDSHQCNPTQICIN

Mouse                         TISRPLVCRFGYQMDEGNQCVDVDECATDSHQCNPTQICIN

Rat                           TISRPLVCRFGYQMDEGNQCVDVDECATDSHQCNPTQICIN

Bovine                        TISRPLICRFGYQMDESNQCVDVDECATDSHQCNPTQICIN

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	24 – 448	Fibulin-5

Literature citations
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery A.J.; Baas D.; Ridley C.; Jones R.P.; Klaver C.C.; Stone E.; Nakamura T.; Luff A.; Griffiths H.; Wang T.; Bergen A.A.; Trump D.;
Hum. Mutat. 27:568-574(2006)
Cited for: VARIANTS ARMD3 LEU-60; GLN-71; SER-87; PRO-124; THR-169; SER-267; TRP-351; THR-363 AND GLU-412; CHARACTERIZATION OF VARIANTS ARMD3 LEU-60; GLN-71; SER-87; PRO-124; THR-169; SER-267; TRP-351; THR-363 AND GLU-412; VARIANTS ARCL1A ARG-217 AND PRO-227; CHARACTERIZATION OF VARIANTS ARCL1A ARG-217 AND PRO-227; VARIANTS MET-126 AND ARG-202; SUBCELLULAR LOCATION; Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
Jones R.P.; Ridley C.; Jowitt T.A.; Wang M.C.; Howard M.; Bobola N.; Wang T.; Bishop P.N.; Kielty C.M.; Baldock C.; Lotery A.J.; Trump D.;
Invest. Ophthalmol. Vis. Sci. 51:2356-2362(2010)
Cited for: CHARACTERIZATION OF VARIANTS MET-126 AND ARG-202; CHARACTERIZATION OF VARIANTS ARMD3 LEU-60; GLN-71; SER-87; PRO-124; THR-169; SER-267; TRP-351 AND GLU-412; CHARACTERIZATION OF VARIANTS ARCL1A ARG-217 AND PRO-227; SUBUNIT; Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M.; Weger M.; Fink-Puches R.; Papic L.; Froehlich E.; Auer-Grumbach P.; El Shabrawi-Caelen L.; Schabhuettl M.; Windpassinger C.; Senderek J.; Budka H.; Trajanoski S.; Janecke A.R.; Haas A.; Metze D.; Pieber T.R.; Guelly C.;
Brain 134:1839-1852(2011)
Cited for: VARIANTS CMT1H ILE-48; SER-90; SER-267 AND CYS-373; VARIANT MET-126;

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.