Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: O15020
308153553

SPTN2_HUMAN RecName: Full=Spectrin beta chain, non-erythrocytic 2; AltName: Full=Beta-III spectrin; AltName: Full=Spinocerebellar ataxia 5 protein

Known Diseases associated with this Protein:
  SPINOCEREBELLAR ATAXIA 5 (SCA5)
2
4
0
0
6
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

SAC6 - COG5069
CH - pfam00307
CH - cd00014
CH - smart00033
CAMSAP_CH - pfam11971
Spectrin - pfam00435
SPEC - cd00176
SPEC - smart00150
PH - smart00233
PH - pfam00169
PH - cd00821
PH_AGAP - cd01250
PH_ARHGAP21-like - cd01253
PH1_Tiam1_2 - cd01230
- cd01246


Swiss-Prot Protein: O15020
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHcd000142.5e-35177281
SPECcd001761.4e-16306531
SPECcd001767.5e-54532747
SPECcd001764.5e-43748958
SPECcd001763.5e-479591172
SPECcd001766.6e-4511731383
SPECcd001761.4e-5213841588
SPECcd001761.1e-4615891801
SPECcd001761.5e-4418022013
PHcd008212.7e-1122212326
PH_AGAPcd012500.0005122212326
PH_ARHGAP21-likecd012534.2e-7422212326
PH1_Tiam1_2cd012305.2e-0822222333
cd012463.2e-0522312326
SAC6COG50698.2e-2650629
CHpfam003071.2e-3158161
CHpfam003072.6e-39177281
Spectrinpfam004353.2e-18305415
Spectrinpfam004359.4e-24425529
Spectrinpfam004353.7e-25531639
Spectrinpfam004351.3e-20641745
Spectrinpfam004355.1e-22747850
Spectrinpfam004351.7e-20852956
Spectrinpfam004358.6e-229581063
Spectrinpfam004357.8e-1710651170
Spectrinpfam004358.6e-0811721276
Spectrinpfam004355.7e-2212781381
Spectrinpfam004351.7e-1913831486
Spectrinpfam004352.2e-2114881586
Spectrinpfam004358.8e-2415881692
Spectrinpfam004351.1e-2416941799
Spectrinpfam004351.7e-1918011905
Spectrinpfam004351.2e-1619072011
PHpfam001693.8e-1422192328
CHsmart000332.5e-2659159
CHsmart000336.2e-23178276
CAMSAP_CHpfam119719.2e-05186262
SPECsmart001501.1e-22428528
SPECsmart001501.7e-26534638
SPECsmart001506e-27644744
SPECsmart001501.7e-22750849
SPECsmart001503.8e-19855955
SPECsmart001503e-249611062
SPECsmart001501.6e-2010681169
SPECsmart001503e-2211751275
SPECsmart001504.7e-2012811380
SPECsmart001501.8e-2413861485
SPECsmart001501.5e-2214911585
SPECsmart001506.7e-2515911691
SPECsmart001502.1e-2316971798
SPECsmart001504.2e-2118041904
SPECsmart001501.7e-2319102010
PHsmart002334.3e-1822192328

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070232Diseasep.ARG480TRPSpinocerebellar ataxia 5 (SCA5)
Swiss-ProtVAR_035458Polymorphismp.GLU774LYSN/A
Swiss-ProtVAR_048631Polymorphismp.GLU835LYSN/A
Swiss-ProtVAR_026767Diseasep.LEU253PROSpinocerebellar ataxia 5 (SCA5)
Swiss-ProtVAR_026770Polymorphismp.SER825GLYN/A
Swiss-ProtVAR_026771Polymorphismp.VAL1034ALAN/A



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258