Results for the protein: Q12756

Results for the Protein: Q12756

119364606

547

KIF1A

NCBI, UniProt

KIF1A_HUMAN RecName: Full=Kinesin-like protein KIF1A; AltName: Full=Axonal transporter of synaptic vesicles; AltName: Full=Microtubule-based motor KIF1A; AltName: Full=Unc-104- and KIF1A-related protein; Short=hUnc-104

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (MRD9)
  SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE
  SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (SPG30)

5

3

3

3

2

Tips:

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Swiss-Prot Protein: Q12756

Identical to: NP_004312

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
KISc_KHC_KIF5	cd01369	8.8e-118	3	354
KISc_KIF2_like	cd01367	1.2e-70	4	352
KISc_KIF3	cd01371	3.3e-122	4	354
KISc_KLP2_like	cd01373	6.4e-98	4	354
KISc_KIF4	cd01372	4.3e-98	4	355
KISc_KIF1A_KIF1B	cd01365	7.2e-274	4	361
KISc_KIF23_like	cd01368	5.6e-33	4	352
KISc	cd00106	2.8e-173	5	352
KISc_CENP_E	cd01374	4.8e-107	5	354
KISc_KIF9_like	cd01375	1.2e-51	5	352
KISc_KID_like	cd01376	1.9e-74	5	352
KISc_KIP3_like	cd01370	6.6e-106	5	354
KISc_C_terminal	cd01366	1.1e-106	8	357
Motor_domain	cd01363	1.3e-187	8	333
FHA	cd00060	3.4e-19	491	596
PH_KIFIA_KIFIB	cd01233	8.2e-65	1575	1674
PH	cd00821	1e-13	1578	1671
PH-like	cd00900	2.6e-09	1578	1671
KIP1	COG5059	4.7e-72	1	592
Kinesin	pfam00225	6.4e-183	11	354
FHA	pfam00498	1.2e-12	516	587
PH	pfam00169	7.8e-18	1576	1673
KISc	smart00129	3.8e-180	5	361
FHA	smart00240	1.5e-09	516	572
KIF1B	pfam12423	4.7e-15	805	852
DUF3694	pfam12473	3.3e-69	1149	1297
PH	smart00233	8.5e-15	1576	1673

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066650	Disease	p.ALA255VAL	Spastic paraplegia 30, autosomal recessive (SPG30)
dbSNP	rs35945835	Polymorphism	p.ARG736SER	N/A
dbSNP	rs35139906	Polymorphism	p.GLN131HIS	N/A
dbSNP	rs116297894	Polymorphism	p.LEU892PHE	N/A
Swiss-Prot	VAR_066649	Disease	p.THR99MET	Mental retardation, autosomal dominant 9 (MRD9)
OMIM	601255.0001	Disease	p.ALA255VAL	SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE
OMIM	601255.0005	Disease	p.ARG350GLY	SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE
OMIM	601255.0004	Disease	p.THR99MET	MENTAL RETARDATION, AUTOSOMAL DOMINANT 9

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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