Results for the protein: Q2M1P5

Results for the Protein: Q2M1P5

172045866

374654

KIF7

NCBI, UniProt

KIF7_HUMAN RecName: Full=Kinesin-like protein KIF7

Known Diseases associated with this Protein:
  ACROCALLOSAL SYNDROME
  ACROCALLOSAL SYNDROME (ACLS)
  BARDET-BIEDL SYNDROME (BBS)
  HYDROLETHALUS SYNDROME 2 (HLS2)
  PALLISTER-HALL SYNDROME (PHS)

8

6

2

2

10

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Swiss-Prot Protein: Q2M1P5

Identical to: NP_940927

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
KISc_KHC_KIF5	cd01369	6.2e-85	13	349
KISc_KIF23_like	cd01368	1e-37	14	347
KISc_KIF1A_KIF1B	cd01365	4.9e-105	14	356
KISc_KIF4	cd01372	7.7e-220	14	350
KISc_KLP2_like	cd01373	5.8e-83	14	349
KISc_KIF2_like	cd01367	4.2e-81	14	347
KISc_KIF3	cd01371	2.4e-93	14	349
KISc	cd00106	1.8e-139	15	347
KISc_KIP3_like	cd01370	8.5e-102	15	349
KISc_CENP_E	cd01374	1.7e-93	15	349
KISc_KIF9_like	cd01375	2.1e-60	15	347
KISc_KID_like	cd01376	2.6e-81	15	347
KISc_C_terminal	cd01366	7.1e-87	17	352
Motor_domain	cd01363	1.1e-48	18	328
KIP1	COG5059	2.5e-61	1	574
Kinesin	pfam00225	3.3e-145	21	349
KISc	smart00129	1.1e-143	15	356

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066452	Disease	p.ARG702GLN	Acrocallosal syndrome (ACLS)
Swiss-Prot	VAR_066451	Disease	p.ARG641GLY	Bardet-Biedl syndrome (BBS)
Swiss-Prot	VAR_066456	Disease	p.ARG1068TRP	Bardet-Biedl syndrome (BBS)
dbSNP	rs8179065	Polymorphism	p.ASP52ASN	N/A
Swiss-Prot	VAR_066454	Polymorphism	p.GLN834ARG	N/A
Swiss-Prot	VAR_066455	Disease	p.GLN994ARG	Bardet-Biedl syndrome (BBS)
Swiss-Prot	VAR_035364	Polymorphism	p.GLY1005ARG	N/A
Swiss-Prot	VAR_066457	Disease	p.HIS1115GLN	Hydrolethalus syndrome 2 (HLS2)
Swiss-Prot	VAR_066453	Polymorphism	p.LEU759PRO	N/A
Swiss-Prot	VAR_066450	Disease	p.PRO632LEU	Pallister-Hall syndrome (PHS)
dbSNP	rs115857753	Polymorphism	p.PRO632LEU	N/A
Swiss-Prot	VAR_035363	Polymorphism	p.SER958ILE	N/A
OMIM	611254.0002	Disease	p.ARG154TER	ACROCALLOSAL SYNDROME
OMIM	611254.0003	Disease	p.GLN1001TER	ACROCALLOSAL SYNDROME

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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