Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30300 | 91123;91124;91125 | chr2:178552002;178552001;178552000 | chr2:179416729;179416728;179416727 |
| N2AB | 28659 | 86200;86201;86202 | chr2:178552002;178552001;178552000 | chr2:179416729;179416728;179416727 |
| N2A | 27732 | 83419;83420;83421 | chr2:178552002;178552001;178552000 | chr2:179416729;179416728;179416727 |
| N2B | 21235 | 63928;63929;63930 | chr2:178552002;178552001;178552000 | chr2:179416729;179416728;179416727 |
| Novex-1 | 21360 | 64303;64304;64305 | chr2:178552002;178552001;178552000 | chr2:179416729;179416728;179416727 |
| Novex-2 | 21427 | 64504;64505;64506 | chr2:178552002;178552001;178552000 | chr2:179416729;179416728;179416727 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/S | rs770641872  |
-1.921 | 0.698 | N | 0.638 | 0.295 | 0.0551355673512 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| R/S | rs770641872 |
-1.921 | 0.698 | N | 0.638 | 0.295 | 0.0551355673512 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/S | rs770641872 |
-1.921 | 0.698 | N | 0.638 | 0.295 | 0.0551355673512 | gnomAD-4.0.0 | 9.30661E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27307E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4966 | ambiguous | 0.5438 | ambiguous | -1.254 | Destabilizing | 0.754 | D | 0.623 | neutral | None | None | None | None | N |
| R/C | 0.1463 | likely_benign | 0.1666 | benign | -1.499 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | N |
| R/D | 0.9219 | likely_pathogenic | 0.9325 | pathogenic | -0.865 | Destabilizing | 0.956 | D | 0.697 | prob.neutral | None | None | None | None | N |
| R/E | 0.6373 | likely_pathogenic | 0.6848 | pathogenic | -0.713 | Destabilizing | 0.754 | D | 0.592 | neutral | None | None | None | None | N |
| R/F | 0.5873 | likely_pathogenic | 0.6109 | pathogenic | -0.909 | Destabilizing | 0.993 | D | 0.739 | prob.delet. | None | None | None | None | N |
| R/G | 0.4509 | ambiguous | 0.5178 | ambiguous | -1.569 | Destabilizing | 0.822 | D | 0.675 | prob.neutral | N | 0.509364948 | None | None | N |
| R/H | 0.1637 | likely_benign | 0.1649 | benign | -1.543 | Destabilizing | 0.978 | D | 0.687 | prob.neutral | None | None | None | None | N |
| R/I | 0.4241 | ambiguous | 0.4539 | ambiguous | -0.382 | Destabilizing | 0.971 | D | 0.739 | prob.delet. | N | 0.470092996 | None | None | N |
| R/K | 0.1318 | likely_benign | 0.1536 | benign | -1.423 | Destabilizing | 0.014 | N | 0.311 | neutral | N | 0.464839105 | None | None | N |
| R/L | 0.3733 | ambiguous | 0.404 | ambiguous | -0.382 | Destabilizing | 0.86 | D | 0.675 | prob.neutral | None | None | None | None | N |
| R/M | 0.3063 | likely_benign | 0.3606 | ambiguous | -0.759 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/N | 0.7692 | likely_pathogenic | 0.7958 | pathogenic | -1.133 | Destabilizing | 0.956 | D | 0.641 | neutral | None | None | None | None | N |
| R/P | 0.9904 | likely_pathogenic | 0.993 | pathogenic | -0.656 | Destabilizing | 0.978 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/Q | 0.1362 | likely_benign | 0.1523 | benign | -1.147 | Destabilizing | 0.915 | D | 0.634 | neutral | None | None | None | None | N |
| R/S | 0.548 | ambiguous | 0.5861 | pathogenic | -1.838 | Destabilizing | 0.698 | D | 0.638 | neutral | N | 0.425822144 | None | None | N |
| R/T | 0.3436 | ambiguous | 0.3956 | ambiguous | -1.503 | Destabilizing | 0.942 | D | 0.665 | neutral | N | 0.504685572 | None | None | N |
| R/V | 0.4815 | ambiguous | 0.5168 | ambiguous | -0.656 | Destabilizing | 0.956 | D | 0.723 | prob.delet. | None | None | None | None | N |
| R/W | 0.2771 | likely_benign | 0.3173 | benign | -0.576 | Destabilizing | 0.998 | D | 0.657 | neutral | None | None | None | None | N |
| R/Y | 0.4713 | ambiguous | 0.5002 | ambiguous | -0.27 | Destabilizing | 0.993 | D | 0.724 | prob.delet. | 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.