Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19486 | 58681;58682;58683 | chr2:178593844;178593843;178593842 | chr2:179458571;179458570;179458569 |
| N2AB | 17845 | 53758;53759;53760 | chr2:178593844;178593843;178593842 | chr2:179458571;179458570;179458569 |
| N2A | 16918 | 50977;50978;50979 | chr2:178593844;178593843;178593842 | chr2:179458571;179458570;179458569 |
| N2B | 10421 | 31486;31487;31488 | chr2:178593844;178593843;178593842 | chr2:179458571;179458570;179458569 |
| Novex-1 | 10546 | 31861;31862;31863 | chr2:178593844;178593843;178593842 | chr2:179458571;179458570;179458569 |
| Novex-2 | 10613 | 32062;32063;32064 | chr2:178593844;178593843;178593842 | chr2:179458571;179458570;179458569 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | N | 0.911 | 0.469 | 0.517876074734 | gnomAD-4.0.0 | 6.84566E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65766E-05 |
| P/R | None | None | 1.0 | N | 0.922 | 0.521 | 0.569878715874 | gnomAD-4.0.0 | 2.0537E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69894E-06 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.3462 | ambiguous | 0.3695 | ambiguous | -0.375 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.467027145 | None | None | N |
| P/C | 0.8354 | likely_pathogenic | 0.8439 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/D | 0.7351 | likely_pathogenic | 0.7549 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/E | 0.6258 | likely_pathogenic | 0.6362 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/F | 0.8936 | likely_pathogenic | 0.8977 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/G | 0.7498 | likely_pathogenic | 0.7702 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/H | 0.6041 | likely_pathogenic | 0.6273 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/I | 0.7612 | likely_pathogenic | 0.7762 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| P/K | 0.6938 | likely_pathogenic | 0.6955 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/L | 0.4363 | ambiguous | 0.4718 | ambiguous | -0.26 | Destabilizing | 1.0 | D | 0.911 | deleterious | N | 0.482592824 | None | None | N |
| P/M | 0.7267 | likely_pathogenic | 0.7294 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/N | 0.7379 | likely_pathogenic | 0.7403 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| P/Q | 0.5617 | ambiguous | 0.5827 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.475611973 | None | None | N |
| P/R | 0.5668 | likely_pathogenic | 0.5939 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.922 | deleterious | N | 0.486714789 | None | None | N |
| P/S | 0.528 | ambiguous | 0.5598 | ambiguous | -0.612 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.522252613 | None | None | N |
| P/T | 0.4042 | ambiguous | 0.4431 | ambiguous | -0.612 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.482346696 | None | None | N |
| P/V | 0.6199 | likely_pathogenic | 0.6359 | pathogenic | -0.268 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/W | 0.9411 | likely_pathogenic | 0.947 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/Y | 0.8645 | likely_pathogenic | 0.8709 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | 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.