Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35008 | 105247;105248;105249 | chr2:178531593;178531592;178531591 | chr2:179396320;179396319;179396318 |
| N2AB | 33367 | 100324;100325;100326 | chr2:178531593;178531592;178531591 | chr2:179396320;179396319;179396318 |
| N2A | 32440 | 97543;97544;97545 | chr2:178531593;178531592;178531591 | chr2:179396320;179396319;179396318 |
| N2B | 25943 | 78052;78053;78054 | chr2:178531593;178531592;178531591 | chr2:179396320;179396319;179396318 |
| Novex-1 | 26068 | 78427;78428;78429 | chr2:178531593;178531592;178531591 | chr2:179396320;179396319;179396318 |
| Novex-2 | 26135 | 78628;78629;78630 | chr2:178531593;178531592;178531591 | chr2:179396320;179396319;179396318 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs1238039888  |
-1.013 | 1.0 | D | 0.771 | 0.755 | 0.715963578734 | gnomAD-2.1.1 | 2.54712E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.87853E-04 | 3.88752E-04 | 9.19118E-04 |
| D/N | rs1238039888 |
-1.013 | 1.0 | D | 0.771 | 0.755 | 0.715963578734 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 5.88E-05 | 0 | 0 |
| D/N | rs1238039888 |
-1.013 | 1.0 | D | 0.771 | 0.755 | 0.715963578734 | gnomAD-4.0.0 | 8.0553E-06 | None | None | None | None | N | None | 1.33508E-05 | 0 | None | 0 | 0 | None | 4.68574E-05 | 0 | 5.93278E-06 | 0 | 3.20215E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9625 | likely_pathogenic | 0.9725 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.635050233 | None | None | N |
| D/C | 0.988 | likely_pathogenic | 0.9927 | pathogenic | -0.03 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/E | 0.9262 | likely_pathogenic | 0.9514 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.599 | neutral | D | 0.617820046 | None | None | N |
| D/F | 0.9918 | likely_pathogenic | 0.9954 | pathogenic | 0.518 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| D/G | 0.9732 | likely_pathogenic | 0.9786 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.635252037 | None | None | N |
| D/H | 0.9491 | likely_pathogenic | 0.9637 | pathogenic | 0.007 | Stabilizing | 1.0 | D | 0.846 | deleterious | D | 0.582055972 | None | None | N |
| D/I | 0.9894 | likely_pathogenic | 0.9935 | pathogenic | 1.172 | Stabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| D/K | 0.9926 | likely_pathogenic | 0.9948 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/L | 0.9876 | likely_pathogenic | 0.9918 | pathogenic | 1.172 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/M | 0.995 | likely_pathogenic | 0.997 | pathogenic | 1.696 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/N | 0.8203 | likely_pathogenic | 0.8685 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.617416438 | None | None | N |
| D/P | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | 0.796 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/Q | 0.9872 | likely_pathogenic | 0.9922 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| D/R | 0.9933 | likely_pathogenic | 0.9955 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| D/S | 0.9149 | likely_pathogenic | 0.9391 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/T | 0.9772 | likely_pathogenic | 0.9842 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/V | 0.9705 | likely_pathogenic | 0.9798 | pathogenic | 0.796 | Stabilizing | 1.0 | D | 0.865 | deleterious | D | 0.635655646 | None | None | N |
| D/W | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | 0.54 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/Y | 0.9533 | likely_pathogenic | 0.9714 | pathogenic | 0.721 | Stabilizing | 1.0 | D | 0.883 | deleterious | D | 0.635453842 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.