PDA

View Full Version : Top TEN MUTATIONS ON OUR SITE



Imogene
01-30-2013, 10:31 AM
From our profiles these are the top 10 mutations on CF.com with the number of people who have them:


1582

F508del



72

G551D



69

R117H



55

G542X



29

N1303K



28

W1282X



26

1717-1G->A



21

3849+10kbC->T



20

I507del



20

5T



18

621+1G->T



13

R553X



13

D1152H

JENNYC
01-30-2013, 11:00 AM
This is great Jeanne!!

welshwitch
01-30-2013, 11:16 AM
Cool! Thanks for posting!

welshwitch
01-30-2013, 11:18 AM
Also really interesting to see I'm in a mega minority as far as genes (N1303K and 621+1G->T, WOW!)

albino15
01-30-2013, 07:43 PM
Cool, big difference between 508 and G551D.

stephen
01-30-2013, 10:16 PM
Jeanne,

Your data really got my interest so I went to the CFTR2 Database which has a little over total 39,600 "patient contributors".

Here are the top ten mutations, out of a total of about 150, as listed in the CFTR2.org website database. As you would expect there is a high degree of correlation with the data you collected so far.

NOTE: It’s really interesting how fast the occurrence drops after F508del, which is by far the most common.







Occurrence Rank





Mutation





Occurrences







1


F508del




29018







2


G542X




1651







3


G551D




1249







4


N1303K




1113







5


W1282X




895







6


R117H




726







7


R553X




593







8


1717-1G->A.




592







9


621+1G->T




555







10


2789+5G->A




492

















21


D1152H




184

















About 150


Y569D




6

Imogene
01-31-2013, 10:31 AM
Thanks for the heads up Stephen.
Our data is from our database of close to 3,000 patients who offered it in their profile. Not sure where 39,000 patients came from for the CFTR site. Is it global?

AleksandraKaczynska
02-07-2013, 01:40 AM
Keep it up..it's great.... most people here at diagnosis search for others with same mutations - like I did.

Imogene
02-08-2013, 01:49 PM
Thanks Aleksandra and all...we have some exciting things coming up! I am hoping to share with you soon.
Jeanne