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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96KG7: Variant p.Cys326Arg

Multiple epidermal growth factor-like domains protein 10
Gene: MEGF10
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Variant information Variant position: help 326 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 Cysteine (C) to Arginine (R) at position 326 (C326R, p.Cys326Arg). 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 polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 CMYP10B; slightly decreased tyrosine phosphorylation; slightly reduced apoptotic cell engulfement by astrocytes; no effect on cell membrane location; no effect on binding to C1q; no effect on myoblasts migration and proliferation; no effect on interaction with NOTCH1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 326 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1140 The length of the canonical sequence.
Location on the sequence: help RCQDECPVGTYGVLCAETCQ C VNGGKCYHVSGACLCEAGFA 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                         RCQDECPVGTYGVLCAETCQCVNGGKCYHVSGACLCEAGFA

Mouse                         RCQDECPVGSYGVRCAEACRCVNGGKCYHVSGTCLCEAGFS

Xenopus tropicalis            RCQEECPVGLYGVKCAQTCQCLNGGKCYHISGACLCEPGYT

Zebrafish                     RCQDQCQVGTYGIGCSQACRCVNGAQCYHVSGACLCEQGYT
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 26 – 1140 Multiple epidermal growth factor-like domains protein 10
Topological domain 26 – 857 Extracellular
Domain 316 – 351 EGF-like 6
Region 1 – 857 Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern
Disulfide bond 320 – 332
Disulfide bond 326 – 339



Literature citations
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Boyden S.E.; Mahoney L.J.; Kawahara G.; Myers J.A.; Mitsuhashi S.; Estrella E.A.; Duncan A.R.; Dey F.; Dechene E.T.; Blasko-Goehringer J.M.; Bonnemann C.G.; Darras B.T.; Mendell J.R.; Lidov H.G.; Nishino I.; Beggs A.H.; Kunkel L.M.; Kang P.B.;
Neurogenetics 13:115-124(2012)
Cited for: INVOLVEMENT IN CMYP10B; VARIANTS CMYP10B TRP-71; ARG-326 AND ARG-774; Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.
Mitsuhashi S.; Mitsuhashi H.; Alexander M.S.; Sugimoto H.; Kang P.B.;
FEBS Lett. 587:2952-2957(2013)
Cited for: CHARACTERIZATION OF VARIANT CMYP10B ARG-326; CHARACTERIZATION OF VARIANT CMYP10A/CMYP10B ARG-774; MUTAGENESIS OF TYR-1030; PHOSPHORYLATION AT TYR-1030; Megf10 Is a Receptor for C1Q That Mediates Clearance of Apoptotic Cells by Astrocytes.
Iram T.; Ramirez-Ortiz Z.; Byrne M.H.; Coleman U.A.; Kingery N.D.; Means T.K.; Frenkel D.; El Khoury J.;
J. Neurosci. 36:5185-5192(2016)
Cited for: CHARACTERIZATION OF VARIANT CMYP10B ARG-326; CHARACTERIZATION OF VARIANT CMYP10A/CMYP10B ARG-774; FUNCTION; INTERACTION WITH COMPLEMENT C1Q; SUBCELLULAR LOCATION; Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.
Takayama K.; Mitsuhashi S.; Shin J.Y.; Tanaka R.; Fujii T.; Tsuburaya R.; Mukaida S.; Noguchi S.; Nonaka I.; Nishino I.;
Neuromuscul. Disord. 26:604-609(2016)
Cited for: INVOLVEMENT IN CMYP10B; INVOLVEMENT IN CMYP10A; TISSUE SPECIFICITY; VARIANT CMYP10B TYR-810; CHARACTERIZATION OF VARIANTS CMYP10B ARG-326; ARG-774 AND TYR-810; Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.
Saha M.; Mitsuhashi S.; Jones M.D.; Manko K.; Reddy H.M.; Bruels C.; Cho K.A.; Pacak C.A.; Draper I.; Kang P.B.;
Hum. Mol. Genet. 26:2984-3000(2017)
Cited for: CHARACTERIZATION OF VARIANT CMYP10B ARG-326; CHARACTERIZATION OF VARIANT CMYP10A/CMYP10B ARG-774; FUNCTION; INTERACTION WITH NOTCH1;
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.