Sequence information
Variant position: 338 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 388 The length of the canonical sequence.
Location on the sequence:
FQYQQALANMQLQQHTAFLP
P VPMVHGATPATVSAATTSAT
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 FQYQQALANMQLQQHTAFLPP VPMVHGATPATVSAATTSAT
Mouse FQYQQALANMQLQQHTAFLPP GSIL----------CMTPAT
Chicken FQYQQALANMQLQQHTAFLPP VPMVHGATPATVSAATTSAT
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
1 – 388
Muscleblind-like protein 1
Alternative sequence
270 – 370
TQSAVKSLKRPLEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATVSAATTSATSVPFAATATANQ -> FPWCTVLRQPLCPQQQHLPQVFPSLQQPQPTSPILDASTLLGATSCPAAAGKM. In isoform 7.
Alternative sequence
338 – 338
P -> PGSILCMTPATSV. In isoform 4, isoform 5 and isoform 6.
Literature citations
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.
Larsen M.; Kress W.; Schoser B.; Hehr U.; Mueller C.R.; Rost S.;
Eur. J. Hum. Genet. 24:1467-1472(2016)
Cited for: VARIANTS DM1 MET-32; 171-ALA--ALA-173 DEL AND SER-338;
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.