Results for the protein: NP

Results for the Protein: NP_001243196

372220097

84665

MYPN

NCBI

myopalladin isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED, 1KK
  CARDIOMYOPATHY, DILATED, 1KK, INCLUDED
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
  CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4

6

0

6

0

0

Tips:

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Default View: I-set - pfam07679 IG_like - smart00410 IG - smart00409 IGc2 - smart00408 V-set - pfam07686	RefSeq Protein: NP_001243196 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IG	smart00409	2.6e-16	275	359
IG_like	smart00410	2.6e-16	275	359
IGc2	smart00408	1.2e-10	282	348
I-set	pfam07679	4.8e-26	435	532
IG	smart00409	1.8e-19	441	533
IG_like	smart00410	1.8e-19	441	533
IGc2	smart00408	1.3e-09	448	522
I-set	pfam07679	6.2e-24	945	1036
IG	smart00409	2e-15	951	1037
IG_like	smart00410	2e-15	951	1037
V-set	pfam07686	0.0004	953	1036
IGc2	smart00408	4.2e-09	958	1026
I-set	pfam07679	6.9e-31	1073	1163
IG	smart00409	5.2e-15	1079	1164
IG_like	smart00410	5.2e-15	1079	1164
IGc2	smart00408	1e-09	1086	1153
I-set	pfam07679	6.1e-21	1172	1263
IG	smart00409	5.1e-15	1178	1264
IG_like	smart00410	5.1e-15	1178	1264
IGc2	smart00408	7.2e-06	1185	1253

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	608517.0001	Disease	p.ARG1088HIS	CARDIOMYOPATHY, DILATED, 1KK
OMIM	608517.0005	Disease	p.GLN529TER	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4
OMIM	608517.0002	Disease	p.PRO1112LEU	CARDIOMYOPATHY, DILATED, 1KK\|\|CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22, INCLUDED
OMIM	608517.0006	Disease	p.PRO961LEU	CARDIOMYOPATHY, DILATED, 1KK
OMIM	608517.0004	Disease	p.TYR20CYS	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22\|\|CARDIOMYOPATHY, DILATED, 1KK, INCLUDED
OMIM	608517.0003	Disease	p.VAL1195MET	CARDIOMYOPATHY, DILATED, 1KK

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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