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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14320: Variant p.Glu254Gly

Protein FAM50A
Gene: FAM50A
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Variant information Variant position: help 254 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamate (E) to Glycine (G) at position 254 (E254G, p.Glu254Gly). 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: help Change from medium size and acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In MRXSA; hypomorphic variant; does not fully rescue craniofacial patterning defects in zebrafish morphant embryos; does not affect FAM50A protein levels in patient cells; does not affect localization to the nucleus. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 254 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 339 The length of the canonical sequence.
Location on the sequence: help LRKDFSELRSAGVEQLMYIK E DLIIPHHHSFYDFIVTKARG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         LRKDFSELRSAGVEQLMYIKEDLIIPHHHSFYDFIVTKARG

Mouse                         LRKDFSELRSAGVEQLMYIKEDLIIPHHHSFYDFIVTKARG

Xenopus tropicalis            LRKDFSELRSAGVEQLMYIKEDLIIPHHHSFYDFIVTKARG

Zebrafish                     LRKDFSELRSAGVEHLMYIKEDLIIPHHHSFYDFIVTKARG

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 339 Protein FAM50A



Literature citations
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Lee Y.R.; Khan K.; Armfield-Uhas K.; Srikanth S.; Thompson N.A.; Pardo M.; Yu L.; Norris J.W.; Peng Y.; Gripp K.W.; Aleck K.A.; Li C.; Spence E.; Choi T.I.; Kwon S.J.; Park H.M.; Yu D.; Do Heo W.; Mooney M.R.; Baig S.M.; Wentzensen I.M.; Telegrafi A.; McWalter K.; Moreland T.; Roadhouse C.; Ramsey K.; Lyons M.J.; Skinner C.; Alexov E.; Katsanis N.; Stevenson R.E.; Choudhary J.S.; Adams D.J.; Kim C.H.; Davis E.E.; Schwartz C.E.;
Nat. Commun. 11:3698-3698(2020)
Cited for: FUNCTION; INTERACTION WITH EFTUD2 AND DDX41; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INVOLVEMENT IN MRXSA; VARIANTS MRXSA GLY-206; GLY-254; ASN-255; GLY-255 AND TRP-273; CHARACTERIZATION OF VARIANTS MRXSA GLY-206; GLY-254; ASN-255; GLY-255 AND TRP-273; CHARACTERIZATION OF VARIANTS VAL-137 AND LYS-143;
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.