XSB1004 : dystrophin Dp427c isoform [Homo sapiens]
[ CaMP Format ]
This entry is computationally expanded from SB0073
* Basic Information
| Organism | Homo sapiens (human) |
| Protein Names | Dystrophin; dystrophin Dp427c isoform |
| Gene Names | DMD; dystrophin |
| Gene Locus | Xp21.2; chromosome X |
| GO Function | Not available |
* Information From OMIM
Description: The DMD gene encodes dystrophin, a large muscle protein that is mutant in Duchenne (OMIM:310200) and Becker (OMIM:300376) muscular dystrophy, defined as progressive deterioration of muscle tissue and resultant weakness.
* Structure Information
1. Primary Information
Length: 3677 aa
Average Mass: 425.582 kDa
Monoisotopic Mass: 425.318 kDa
2. Domain Information
Annotated Domains: interpro / pfam / smart / prosite
Computationally Assigned Domains (Pfam+HMMER):
| domain name | begin | end | score | e-value |
|---|---|---|---|---|
| CH 1. | 8 | 111 | 108.8 | 1.9e-29 |
| CH 2. | 127 | 232 | 100.9 | 4.3e-27 |
| Spectrin 1. | 331 | 439 | 79.5 | 1.2e-20 |
| Spectrin 2. | 440 | 548 | 69.0 | 1.8e-17 |
| --- cleavage 682 --- | ||||
| Spectrin 3. | 711 | 819 | 11.9 | 0.0034 |
| Spectrin 4. | 822 | 926 | 40.8 | 5.3e-09 |
| Spectrin 5. | 935 | 1037 | 8.5 | 0.0065 |
| Spectrin 6. | 1040 | 1146 | 89.1 | 1.6e-23 |
| Spectrin 7. | 1149 | 1255 | 58.9 | 1.9e-14 |
| Spectrin 8. | 1258 | 1359 | 16.4 | 0.0014 |
| DUF1136 1. | 1405 | 1428 | -5.0 | 6.4 |
| Spectrin 9. | 1451 | 1560 | 0.4 | 0.031 |
| Spectrin 10. | 1563 | 1668 | 53.2 | 1e-12 |
| Spectrin 11. | 1671 | 1771 | 60.3 | 7.4e-15 |
| Involucrin 1. | 1841 | 1850 | 2.3 | 1.3e |
| Spectrin 12. | 1869 | 1971 | 47.1 | 6.8e-11 |
| --- cleavage 1984 --- | ||||
| Spectrin 13. | 2096 | 2200 | 80.2 | 7.7e-21 |
| Spectrin 14. | 2203 | 2310 | 63.3 | 9.2e-16 |
| Involucrin 2. | 2322 | 2331 | 3.7 | 58 |
| VitD-bind_III 1. | 2382 | 2443 | -24.8 | 6 |
| Spectrin 15. | 2462 | 2569 | 20.2 | 0.00068 |
| Spectrin 16. | 2572 | 2678 | 57.2 | 6.4e-14 |
| Spectrin 17. | 2681 | 2794 | 22.7 | 0.00042 |
| Spectrin 18. | 2926 | 3032 | 76.9 | 7.2e-20 |
| WW 1. | 3049 | 3078 | 48.9 | 2e-11 |
| efhand_1 1. | 3079 | 3199 | 274.7 | 2.1e-79 |
| efhand_2 1. | 3203 | 3294 | 230.0 | 6.1e-66 |
| ZZ 1. | 3299 | 3344 | 93.3 | 8.6e-25 |
| M 1. | 3493 | 3513 | 9.4 | 8.3 |
| M 2. | 3559 | 3579 | 5.1 | 31 |
3. Sequence Information
Fasta Sequence: XSB1004.fasta
Amino Acid Sequence and Secondary Structures (PsiPred):
* Cleavage Information
2 [sites]
Cleavage sites (±10aa)
[Site 1] MVMTEDMPLE1984-ISYVPSTYLT
Glu1984 
Ile
 |
|||||||||
| P10 | P9 | P8 | P7 | P6 | P5 | P4 | P3 | P2 | P1 |
|---|---|---|---|---|---|---|---|---|---|
| Met1975 | Val1976 | Met1977 | Thr1978 | Glu1979 | Asp1980 | Met1981 | Pro1982 | Leu1983 | Glu1984 |
 |
|||||||||
| P1' | P2' | P3' | P4' | P5' | P6' | P7' | P8' | P9' | P10' |
| Ile1985 | Ser1986 | Tyr1987 | Val1988 | Pro1989 | Ser1990 | Thr1991 | Tyr1992 | Leu1993 | Thr1994 |
Sequence conservation (by blast)
[Site 2] VMETVTTVTT682-REQILVKHAQ
Thr682 Arg
|
|||||||||
| P10 | P9 | P8 | P7 | P6 | P5 | P4 | P3 | P2 | P1 |
|---|---|---|---|---|---|---|---|---|---|
| Val673 | Met674 | Glu675 | Thr676 | Val677 | Thr678 | Thr679 | Val680 | Thr681 | Thr682 |
|
|||||||||
| P1' | P2' | P3' | P4' | P5' | P6' | P7' | P8' | P9' | P10' |
| Arg683 | Glu684 | Gln685 | Ile686 | Leu687 | Val688 | Lys689 | His690 | Ala691 | Gln692 |
Sequence conservation (by blast)
* References
[PubMed ID: 19409785] Almomani R, van der Stoep N, Bakker E, den Dunnen JT, Breuning MH, Ginjaar IB, Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis. Neuromuscul Disord. 2009 Jun;19(6):383-90. Epub 2009 May 5.