CaMPDB :: Substrate

XSB0470 : dystrophin Dp260-2 isoform [Homo sapiens]

This entry is computationally expanded from SB0073

* Basic Information

Organism	Homo sapiens (human)
Protein Names	Dystrophin; dystrophin Dp260-2 isoform
Gene Names	DMD; dystrophin
Gene Locus	Xp21.2; chromosome X
GO Function	Not available

Entrez Protein	Entrez Nucleotide	Entrez Gene	UniProt	OMIM	HGNC	HPRD	KEGG
NP_004003	NM_004012	1756	P11532	300377	2928	N/A	hsa:1756

* 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: 2341 aa

Average Mass: 271.040 kDa

Monoisotopic Mass: 270.872 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain name	begin	end	score	e-value
DUF1136 1.	69	92	-5.0	6.4
Spectrin 1.	115	224	0.4	0.031
Spectrin 2.	227	332	53.2	1e-12
Spectrin 3.	335	435	60.3	7.4e-15
Involucrin 1.	505	514	2.3	1.3e
Spectrin 4.	533	635	47.1	6.8e-11
--- cleavage 648 ---
Spectrin 5.	760	864	80.2	7.7e-21
Spectrin 6.	867	974	63.3	9.2e-16
Involucrin 2.	986	995	3.7	58
VitD-bind_III 1.	1046	1107	-24.8	6
Spectrin 7.	1126	1233	20.2	0.00068
Spectrin 8.	1236	1342	57.2	6.4e-14
Spectrin 9.	1345	1458	22.7	0.00042
Spectrin 10.	1590	1696	76.9	7.2e-20
WW 1.	1713	1742	48.9	2e-11
efhand_1 1.	1743	1863	274.7	2.1e-79
efhand_2 1.	1867	1958	230.0	6.1e-66
ZZ 1.	1963	2008	93.3	8.6e-25
M 1.	2157	2177	9.4	8.3
M 2.	2223	2243	5.1	31

3. Sequence Information

Fasta Sequence: XSB0470.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Known Structures in PDB: 1DXX (X-ray; 260 A; A/B/C/D=1-246), 1EG3 (X-ray; 200 A; A=3046-3306), 1EG4 (X-ray; 200 A; A=3046-3306)

* Cleavage Information

1 [sites]

Cleavage sites (±10aa)

[Site 1] MVMTEDMPLE⁶⁴⁸-ISYVPSTYLT

Glu⁶⁴⁸ Ile

P10	P9	P8	P7	P6	P5	P4	P3	P2	P1

Met⁶³⁹	Val⁶⁴⁰	Met⁶⁴¹	Thr⁶⁴²	Glu⁶⁴³	Asp⁶⁴⁴	Met⁶⁴⁵	Pro⁶⁴⁶	Leu⁶⁴⁷	Glu⁶⁴⁸

P1'	P2'	P3'	P4'	P5'	P6'	P7'	P8'	P9'	P10'
Ile⁶⁴⁹	Ser⁶⁵⁰	Tyr⁶⁵¹	Val⁶⁵²	Pro⁶⁵³	Ser⁶⁵⁴	Thr⁶⁵⁵	Tyr⁶⁵⁶	Leu⁶⁵⁷	Thr⁶⁵⁸

Sequence conservation (by blast) Sequence conservation (by blast)

Reference peptide (cleaved bond±30 residues)
FAQFRRLNFAQIHTVREETMMVMTEDMPLEISYVPSTYLTEITHVSQALLEVEQLLNAPD

Summary

#	organism	max score	hits	top seq
1	Homo sapiens	120.00	15	dystrophin Dp260-2 isoform
2	N/A	120.00	2	D
3	Macaca mulatta	118.00	1	PREDICTED: dystrophin, partial
4	Bos taurus	110.00	1	PREDICTED: similar to dystrophin Dp260-1
5	Sus scrofa	109.00	1	dystrophin
6	Canis lupus familiaris	108.00	1	dystrophin
7	Canis familiaris	108.00	1	PREDICTED: hypothetical protein XP_850502
8	Rattus norvegicus	103.00	1	PREDICTED: similar to dystrophin, muscular dystrop
9	Mus musculus	99.40	1	dystrophin, muscular dystrophy
10	Monodelphis domestica	85.50	1	PREDICTED: similar to T cell antigen receptor alph

Top-ranked sequences

organism	matching
Homo sapiens	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678
N/A	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678
Macaca mulatta	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\| Sbjct 1665 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALSEVEQLLNAPD 1724
Bos taurus	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|++\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\| \|\|\|\|\|\|\|\|\|\| Sbjct 622 FAQFRRLNFAQIHTVHEESVMVMTEDMPLE#ISYVPSTYLTEITHVLQALSEVEQLLNAPD 681
Sus scrofa	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\| \|\|\|\|\|\|\|\|\|\|\|\| \|\|++\|\|\|\|\|\|\|\|\|\|#\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\|\|\| \|\|\|\|\|\|\|\|\|\| Sbjct 1959 FAHFRRLNFAQIHTVHEESVMVMTEDMPLE#ISYVPSAYLTEITHVSQALSEVEQLLNAPD 2018
Canis lupus familiaris	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|+++ \|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|+\|\|\|\|\|\| Sbjct 1965 FAQFRRLNFAQIHTVHEESVVAMTEDMPLE#ISYVPSTYLTEITHVSQALSEVEELLNAPD 2024
Canis familiaris	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|+++ \|\|\|\|\|\|\|\|#\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\|\| \|\|\|+\|\|\|\|\|\| Sbjct 1842 FAQFRRLNFAQIHTVHEESVVAMTEDMPLE#ISYVPSTYLTEITHVSQALSEVEELLNAPD 1901
Rattus norvegicus	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\|\|\|\|\|\|\|\|\|\|\|\|\|+ \|\|\|\|+\| \|\|\|\|\|\|+#+\|\|\|\|\|\|\|\|\|\|\|+\|+ \|\|\| \|\|\|\|\|\|\|\|\|+ Sbjct 1619 FAQFRRLNFAQIHTLHEETMVVTTEDMPLD#VSYVPSTYLTEISHILQALSEVEQLLNAPE 1678
Mus musculus	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\|\|\|\|\|\|\|\|\|\|\|\|\|+ \|\|\|\|+\| \|\|\|\|\|\|+#+\|\|\|\|\|\|\|\|\|\|\|+\|+ \|\|\| \|\|+ \|\|\| \|+ Sbjct 1965 FAQFRRLNFAQIHTLHEETMVVTTEDMPLD#VSYVPSTYLTEISHILQALSEVDHLLNTPE 2024
Monodelphis domestica	Query 619 FAQFRRLNFAQIHTVREETMMVMTEDMPLE#ISYVPSTYLTEITHVSQALLEVEQLLNAPD 678 \|\|\|\|\|\|\|\|+\|\|\| \|\|\|\|\|\| \|\|\|\|\| +\|\|\|# \|\|\|\|\|\|\| \|\| \|+\| + \| \| \|\|\| \|\| Sbjct 1958 FAQFRRLNYAQIQTVREETTMVMTEGLPLE#TLYVPSTYLAEIHRVTQNISEAEFLLNTPD 2017

* 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.

» More (9) « Hide Below

[PubMed ID: 19158079] ... Legardinier S, Legrand B, Raguenes-Nicol C, Bondon A, Hardy S, Tascon C, Le Rumeur E, Hubert JF, A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin. J Biol Chem. 2009 Mar 27;284(13):8822-32. Epub 2009 Jan 20.

[PubMed ID: 19194174] ... Vatta M, Sinagra G, Brunelli L, Faulkner G, Remodeling of dystrophin and sarcomeric Z-band occurs in pediatric cardiomyopathies: a unifying mechanism for force transmission defect. J Cardiovasc Med (Hagerstown). 2009 Feb;10(2):149-56.

[PubMed ID: 19084397] ... Piko H, Vancso V, Nagy B, Ban Z, Herczegfalvi A, Karcagi V, Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives. Neuromuscul Disord. 2009 Feb;19(2):108-12. Epub 2008 Dec 11.

[PubMed ID: 19173203] ... Gonzalez-Herrera L, Gamas-Trujillo PA, Garcia-Escalante MG, Castillo-Zapata I, Pinto-Escalante D, [Identifying deletions in the dystrophin gene and detecting carriers in families with Duchenne's/Becker's muscular dystrophy] Rev Neurol. 2009 Jan 16-31;48(2):66-70.

[PubMed ID: 1307253] ... Nigro V, Politano L, Nigro G, Romano SC, Molinari AM, Puca GA, Detection of a nonsense mutation in the dystrophin gene by multiple SSCP. Hum Mol Genet. 1992 Oct;1(7):517-20.

[PubMed ID: 1307251] ... Gorecki DC, Monaco AP, Derry JM, Walker AP, Barnard EA, Barnard PJ, Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet. 1992 Oct;1(7):505-10.

[PubMed ID: 1380160] ... Hugnot JP, Gilgenkrantz H, Vincent N, Chafey P, Morris GE, Monaco AP, Berwald-Netter Y, Koulakoff A, Kaplan JC, Kahn A, et al., Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7506-10.

[PubMed ID: 1319059] ... Lederfein D, Levy Z, Augier N, Mornet D, Morris G, Fuchs O, Yaffe D, Nudel U, A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc Natl Acad Sci U S A. 1992 Jun 15;89(12):5346-50.

[PubMed ID: 1377655] ... Rapaport D, Lederfein D, den Dunnen JT, Grootscholten PM, Van Ommen GJ, Fuchs O, Nudel U, Yaffe D, Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene. Differentiation. 1992 Apr;49(3):187-93.