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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51608: Variant p.Ala140Val

Methyl-CpG-binding protein 2
Gene: MECP2
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Variant information Variant position: help 140 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 Alanine (A) to Valine (V) at position 140 (A140V, p.Ala140Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 MRXS13; impairs interaction with ATRX and abolishes ATRX recruitment to heterochromatin. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 486 The length of the canonical sequence.
Location on the sequence: help YDVYLINPQGKAFRSKVELI A YFEKVGDTSLDPNDFDFTVT 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                         YDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVT

Mouse                         YDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVT

Rat                           YDVYLINPQGKAFRSKVELIAYFEKVGDTSLDPNDFDFTVT
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 1 – 486 Methyl-CpG-binding protein 2
Domain 90 – 162 MBD
Helix 135 – 144



Literature citations
MECP2 mutation in male patients with non-specific X-linked mental retardation.
Orrico A.; Lam C.; Galli L.; Dotti M.T.; Hayek G.; Tong S.F.; Poon P.M.; Zappella M.; Federico A.; Sorrentino V.;
FEBS Lett. 481:285-288(2000)
Cited for: VARIANT MRXS13 VAL-140; VARIANT MET-203; MECP2 is highly mutated in X-linked mental retardation.
Couvert P.; Bienvenu T.; Aquaviva C.; Poirier K.; Moraine C.; Gendrot C.; Verloes A.; Andres C.; Le Fevre A.C.; Souville I.; Steffann J.; des Portes V.; Ropers H.-H.; Yntema H.G.; Fryns J.-P.; Briault S.; Chelly J.; Cherif B.;
Hum. Mol. Genet. 10:941-946(2001)
Cited for: VARIANTS MRXS13 GLY-137; VAL-140; TRP-167; GLU-284; LEU-399 AND GLN-453; A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.
Klauck S.M.; Lindsay S.; Beyer K.S.; Splitt M.; Burn J.; Poustka A.;
Am. J. Hum. Genet. 70:1034-1037(2002)
Cited for: VARIANT MRXS13 VAL-140; Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
Winnepenninckx B.; Errijgers V.; Hayez-Delatte F.; Reyniers E.; Kooy R.F.;
Hum. Mutat. 20:249-252(2002)
Cited for: VARIANT MRXS13 VAL-140; MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.
Laccone F.; Zoll B.; Huppke P.; Hanefeld F.; Pepinski W.; Trappe R.;
J. Med. Genet. 39:586-588(2002)
Cited for: VARIANT MRXS13 VAL-140; VARIANT RTT TRP-344; VARIANTS MET-197; SER-376; LEU-399 AND SER-428; DISCUSSION OF PATHOGENIC ROLE; A Rett syndrome MECP2 mutation that causes mental retardation in men.
Dotti M.T.; Orrico A.; De Stefano N.; Battisti C.; Sicurelli F.; Severi S.; Lam C.-W.; Galli L.; Sorrentino V.; Federico A.;
Neurology 58:226-230(2002)
Cited for: VARIANT MRXS13 VAL-140; Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
Nan X.; Hou J.; Maclean A.; Nasir J.; Lafuente M.J.; Shu X.; Kriaucionis S.; Bird A.;
Proc. Natl. Acad. Sci. U.S.A. 104:2709-2714(2007)
Cited for: CHARACTERIZATION OF VARIANT RTT CYS-133; CHARACTERIZATION OF VARIANT MRXS13 VAL-140;
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.