Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6737 | 20434;20435;20436 | chr2:178727156;178727155;178727154 | chr2:179591883;179591882;179591881 |
| N2AB | 6420 | 19483;19484;19485 | chr2:178727156;178727155;178727154 | chr2:179591883;179591882;179591881 |
| N2A | 5493 | 16702;16703;16704 | chr2:178727156;178727155;178727154 | chr2:179591883;179591882;179591881 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs1280168103  |
-0.644 | 0.901 | N | 0.593 | 0.317 | 0.425970041486 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.31E-05 | None | 0 | 0 | 0 |
| D/A | rs1280168103 |
-0.644 | 0.901 | N | 0.593 | 0.317 | 0.425970041486 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14079E-04 | 0 |
| D/A | rs1280168103 |
-0.644 | 0.901 | N | 0.593 | 0.317 | 0.425970041486 | gnomAD-4.0.0 | 2.48988E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.46718E-05 | 0 |
| D/V | None | None | 0.071 | N | 0.443 | 0.348 | 0.49741755877 | gnomAD-4.0.0 | 1.37525E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.06355E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4167 | ambiguous | 0.6126 | pathogenic | -0.744 | Destabilizing | 0.901 | D | 0.593 | neutral | N | 0.518858096 | None | None | N |
| D/C | 0.8803 | likely_pathogenic | 0.9405 | pathogenic | -0.28 | Destabilizing | 0.996 | D | 0.771 | deleterious | None | None | None | None | N |
| D/E | 0.3428 | ambiguous | 0.4535 | ambiguous | -0.745 | Destabilizing | 0.674 | D | 0.513 | neutral | N | 0.458020281 | None | None | N |
| D/F | 0.7266 | likely_pathogenic | 0.8539 | pathogenic | -0.442 | Destabilizing | 0.997 | D | 0.783 | deleterious | None | None | None | None | N |
| D/G | 0.5571 | ambiguous | 0.7284 | pathogenic | -1.094 | Destabilizing | 0.93 | D | 0.605 | neutral | N | 0.496581789 | None | None | N |
| D/H | 0.5516 | ambiguous | 0.7306 | pathogenic | -0.778 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | D | 0.534616982 | None | None | N |
| D/I | 0.4551 | ambiguous | 0.6248 | pathogenic | 0.186 | Stabilizing | 0.956 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/K | 0.7771 | likely_pathogenic | 0.8727 | pathogenic | -0.378 | Destabilizing | 0.997 | D | 0.668 | neutral | None | None | None | None | N |
| D/L | 0.5943 | likely_pathogenic | 0.7414 | pathogenic | 0.186 | Stabilizing | 0.956 | D | 0.653 | neutral | None | None | None | None | N |
| D/M | 0.7986 | likely_pathogenic | 0.8823 | pathogenic | 0.729 | Stabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | N |
| D/N | 0.1789 | likely_benign | 0.2795 | benign | -0.829 | Destabilizing | 0.966 | D | 0.579 | neutral | N | 0.514895071 | None | None | N |
| D/P | 0.9057 | likely_pathogenic | 0.9619 | pathogenic | -0.1 | Destabilizing | 0.949 | D | 0.714 | prob.delet. | None | None | None | None | N |
| D/Q | 0.7105 | likely_pathogenic | 0.813 | pathogenic | -0.703 | Destabilizing | 0.997 | D | 0.623 | neutral | None | None | None | None | N |
| D/R | 0.7871 | likely_pathogenic | 0.8672 | pathogenic | -0.292 | Destabilizing | 0.997 | D | 0.759 | deleterious | None | None | None | None | N |
| D/S | 0.3007 | likely_benign | 0.4676 | ambiguous | -1.12 | Destabilizing | 0.857 | D | 0.529 | neutral | None | None | None | None | N |
| D/T | 0.4536 | ambiguous | 0.6332 | pathogenic | -0.819 | Destabilizing | 0.067 | N | 0.341 | neutral | None | None | None | None | N |
| D/V | 0.3207 | likely_benign | 0.486 | ambiguous | -0.1 | Destabilizing | 0.071 | N | 0.443 | neutral | N | 0.479070344 | None | None | N |
| D/W | 0.9542 | likely_pathogenic | 0.9752 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/Y | 0.323 | likely_benign | 0.4775 | ambiguous | -0.183 | Destabilizing | 0.999 | D | 0.777 | deleterious | N | 0.515935221 | 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.