FILE ACCEPTED ONLY AS .TXT

The data can be entered in 4 different combinations:
1. Patient variation data & Normal data selected from the options given
2. Patient sequence data & Normal data selected from the options given (*)
3. Patient sequence data & Normal sequence data (*)
4. Patient variation data & Normal sequence data (*)

Input Formats for patient variation data      Run Example Input File

Once the files are selected, move down the page to customize the scores for parameters and press submit button at the end of the page

Enter name of the project

 

STEP 1

Upload patient variation input File : OR  Upload patient sequences in multifasta :

          

STEP 2

Select normal population from this list  

 

 

Click here for Details of Scoring Sites


-- User can customize values in green text-boxes    -- Default constant values in pink text-boxes


SIFT

Intolerant         

PolyPhen

   Possibly damaging    Probably damaging

 

Invariant Peptides

Present

 

HRE

Present          Absent

Allele frequency/Mutation

D>N               D<N

 

H-Strand Promoter

Present         Absent

L-Strand Promoter

Present          Absent

 

12sRNA
OMIM

Sites considered for scoring:
  

16sRNA
OMIM

Sites considered for scoring:

 

Complex I

 ND1 OMIM SWISSPROT ND2 OMIM SWISSPROT ND3 OMIM SWISSPROT
ND4 OMIM SWISSPROT ND5 OMIM SWISSPROT ND6 OMIM SWISSPROT
ND4L OMIM SWISSPROT



Sites considered for scoring:

Complex III

CYTB OMIM SWISSPROT




Sites considered for scoring:

 

Complex IV

COX1 OMIM SWISSPROT COX2 OMIM SWISSPROT COX3 OMIM SWISSPROT



Sites considered for scoring:

 

Complex V

ATP6 OMIM SWISSPORT, ATP8 OMIM SWISSPROT

 Sites considered for scoring:

 D-loop 

 Sites considered for reporting results:

 

Known tRNA-pathological mutations

tRNA-Ala

 OMIM:590000
tRNA-Arg OMIM:590005
tRNA-Asn OMIM:590010
tRNA-Asp OMIM:590015
tRNA-Cys OMIM:590020
tRNA-Gln OMIM:590030
tRNA-Glu OMIM:590025
tRNA-Gly OMIM:590035
tRNA-His OMIM:590040
tRNA-Ile OMIM:590045
tRNA-Leu OMIM:590050

tRNA-Leu2 OMIM:590055

tRNA-Lys OMIM:590060

tRNA-Met OMIM:590065

tRNA-Phe OMIM:590070

tRNA-Pro OMIM:590075

tRNA-Ser OMIM:590080
tRNA-Ser2 OMIM:590085
tRNA-Thr OMIM:590090
tRNA-Trp OMIM:590095
tRNA-Tyr OMIM:590100
tRNA-Val OMIM:590105

Sites considered for scoring:

 

Initiation codon

 Syn change          Non-Syn Change

Stop Codon

Change leading to stop codon

 

TERF

32G not tolerated 13bp consensus 3237-3240 (TGGC) 		7sDNA

Present         Absent



Age of Onset
Range Score
<10 years
10-20 years
21-30 years
31-40 years
40 and above
Nuclear Modifier

Values