Download Consensus DYSF protein Dysferlin sequences submitted to GenBank

Consensus DYSF protein
1
6240 6243
MLRVF...
nucleotide #
...VKPFS X
1
2080
amino acid #
This consensus sequence is based on the GenBank sequence NM_003494. The first base of the ATG start codon is
position 1, and the last base of the stop codon after the final amino acid (S) is position 6243. The DYSF protein is
2080 amino acids long.
Dysferlin sequences submitted to GenBank
NM_003494:
6608 6611
370
1-369
370 - 6608
MLRVF...
nucleotide #
6612-6907
...VKPFS X
1 - 2080
1
amino acid #
2080
The DYSF coding region begins at position 370 and ends at position 6608 of this mRNA nucleotide sequence.
The full 2080 amino acid protein is present. This is the GenBank sequence used for the consensus sequence above.
AF075575:
374
1-373
6613 6616
374 - 6613
MLRVF...
nucleotide #
6617-6911
...VKPFS X
1 - 2080
1
2080
amino acid #
The DYSF coding region begins at position 374 and ends at position 6613 of this mRNA nucleotide sequence.
The full 2080 amino acid protein is present.
DQ267935:
6384 6387
142 231
1-141
232 - 6384
*
VKKRT...
...VKPFS X
nucleotide #
6388-6543
31 - 2081
*alternate
exon 1
1 30
29
2081
amino acid #
2080
This mRNA sequence codes for an alternate first exon for the DYSF protein. The coding region begins at position 142
and ends at position 6384 of the nucleotide sequence. The alternate first exon (amino acids 1 - 30 of DQ267935) is
coded by nucleotides 142 - 231 and is one amino acid longer than the standard first exon. Amino acids 31 - 2081 of
DQ267935 correspond to amino acids 30 - 2080 of the consensus DYSF protein.
AJ007670:
17
1-16
1-5
MLRVF...
nucleotide #
4225
17 - 4225
EQKVE...
...GWWPC
6 - 1408
4226 - 5646
1409 - 1413
6
1408
569
1971
amino acid #
Amino acids 6 - 1408 of this sequence (coded by nucleotides 17 - 4225) correspond to amino acids 569 - 1971 of
the consensus DYSF protein. There is a one base insertion at position 4225 of the nucleotide sequence, which
changes the reading frame for the rest of the protein sequence.
AJ007973:
19078 19176
1-19077
31270 31398
19177-31269
*
1 33
33986 34141
31399-33985
34 76
35668 35761
34142-35667
35762-36133
129 159
77 128
nucleotide #
amino acid #
*exon 41
MLRVF...
1471 1629
This genomic DNA sequence includes exons 41-44 of the DYSF protein (amino acids 1471 - 1629 of the consensus
protein sequence). Exon 41 starts at position 19078 of the nucleotide sequence, and the other boundaries between
exons (boxes) and introns (lines) are also indicated.
AJ566204:
nucleotide #
3854 3941
1 - 3853
*
3942-4165
amino acid #
1 29
*exon 1
1 29
...VKPFS
This genomic DNA sequence includes the 5' UTR and exon 1 of the DYSF protein (amino acids 1 - 29 of the
consensus protein sequence). Exon 1 starts at position 3854 of the nucleotide sequence.
Accession:
Definition:
Nucleotide:
Protein:
Date:
Reference:
NM_003494
Homo sapiens dysferlin, limb girdle muscular dystrophy 2B
(autosomal recessive) (DYSF), mRNA.
6907 bp
2080 aa
Mar 26, 2002
multiple (consensus sequence)
Accession:
AF075575
Definition:
Homo sapiens dysferlin mRNA, complete cds.
Nucleotide:
6911 bp
Protein:
2080 aa
Date:
Oct 9, 1998
Reference:
Liu J, et al, and Brown RH Jr. 1998. Dysferlin, a novel skeletal muscle gene, is
mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet
20(1):31-36.
Accession:
Definition:
Nucleotide:
Protein:
Date:
DQ267935
Homo sapiens dysferlin_v1 (DYSF) mRNA, complete cds.
6543 bp
2081 aa
Oct 27, 2005
Reference:
Pramono ZAD, et al, and Yee WC. 2006. Identification and characterization of a
novel human dysferlin transcript: dysferlin_v1. Hum Genet 120(3):410-419.
Accession:
AJ007670
Definition:
Homo sapiens mRNA for LGMD2B protein.
Nucleotide:
5646 bp
Protein:
1413 aa
Date:
Jul 13, 1998
Reference:
Bashir R, et al, and Bushby K. 1998. A gene related to Caenorhabditis elegans
spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
Nat Genet 20(1):37-42.
Accession:
AJ007973
Definition:
Homo sapiens LGMD2B gene.
Nucleotide:
36133 bp
Protein:
158 aa
Date:
Jun 15, 1998
Reference:
Bashir R, et al, and Bushby K. 1998. A gene related to Caenorhabditis elegans
spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
Nat Genet 20(1):37-42.
Accession:
AJ566204
Definition:
Homo sapiens partial DYSF gene for dysferlin, 5' UTR and exon 1.
Nucleotide:
4165 bp
Protein:
29 aa
Date:
Jun 9, 2003
Reference:
Foxton RM, Laval SH, and Bushby KM. 2004. Characterisation of the dysferlin
skeletal muscle promoter. Eur J Hum Genet 12(2):127-131.