Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5263 | 16012;16013;16014 | chr2:178733506;178733505;178733504 | chr2:179598233;179598232;179598231 |
| N2AB | 4946 | 15061;15062;15063 | chr2:178733506;178733505;178733504 | chr2:179598233;179598232;179598231 |
| N2A | 4019 | 12280;12281;12282 | chr2:178733506;178733505;178733504 | chr2:179598233;179598232;179598231 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | rs1166030692  |
-0.561 | 0.689 | D | 0.489 | 0.221 | 0.415690173769 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| I/L | rs1166030692 |
-0.561 | 0.689 | D | 0.489 | 0.221 | 0.415690173769 | gnomAD-4.0.0 | 1.60066E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77809E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/N | rs776892266 |
-1.389 | 0.998 | D | 0.831 | 0.494 | 0.746474153379 | gnomAD-2.1.1 | 7.9E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 8.44459E-04 | 7.87E-06 | 0 |
| I/N | rs776892266 |
-1.389 | 0.998 | D | 0.831 | 0.494 | 0.746474153379 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 4.71965E-04 | 0 | 0 | 0 | 0 |
| I/N | rs776892266 |
-1.389 | 0.998 | D | 0.831 | 0.494 | 0.746474153379 | gnomAD-4.0.0 | 6.04903E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.07347E-04 | 0 | 0 | 0 | 5.71788E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9205 | likely_pathogenic | 0.9481 | pathogenic | -2.194 | Highly Destabilizing | 0.97 | D | 0.605 | neutral | None | None | None | None | N |
| I/C | 0.9455 | likely_pathogenic | 0.9654 | pathogenic | -1.61 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| I/D | 0.9866 | likely_pathogenic | 0.9914 | pathogenic | -1.901 | Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | N |
| I/E | 0.974 | likely_pathogenic | 0.981 | pathogenic | -1.717 | Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | N |
| I/F | 0.3871 | ambiguous | 0.5344 | ambiguous | -1.251 | Destabilizing | 0.071 | N | 0.353 | neutral | N | 0.47472766 | None | None | N |
| I/G | 0.9783 | likely_pathogenic | 0.9873 | pathogenic | -2.706 | Highly Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| I/H | 0.9637 | likely_pathogenic | 0.977 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| I/K | 0.9518 | likely_pathogenic | 0.9604 | pathogenic | -1.57 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| I/L | 0.3208 | likely_benign | 0.3777 | ambiguous | -0.755 | Destabilizing | 0.689 | D | 0.489 | neutral | D | 0.579466908 | None | None | N |
| I/M | 0.2225 | likely_benign | 0.2697 | benign | -0.8 | Destabilizing | 0.994 | D | 0.563 | neutral | D | 0.64112365 | None | None | N |
| I/N | 0.8552 | likely_pathogenic | 0.8852 | pathogenic | -1.756 | Destabilizing | 0.998 | D | 0.831 | deleterious | D | 0.679143641 | None | None | N |
| I/P | 0.953 | likely_pathogenic | 0.9726 | pathogenic | -1.211 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| I/Q | 0.9591 | likely_pathogenic | 0.969 | pathogenic | -1.663 | Destabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| I/R | 0.9325 | likely_pathogenic | 0.9496 | pathogenic | -1.298 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| I/S | 0.9298 | likely_pathogenic | 0.9512 | pathogenic | -2.528 | Highly Destabilizing | 0.994 | D | 0.748 | deleterious | D | 0.677783423 | None | None | N |
| I/T | 0.9255 | likely_pathogenic | 0.9477 | pathogenic | -2.197 | Highly Destabilizing | 0.961 | D | 0.658 | neutral | D | 0.677192438 | None | None | N |
| I/V | 0.1724 | likely_benign | 0.2026 | benign | -1.211 | Destabilizing | 0.248 | N | 0.275 | neutral | N | 0.4850398 | None | None | N |
| I/W | 0.9486 | likely_pathogenic | 0.9696 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| I/Y | 0.8496 | likely_pathogenic | 0.8984 | pathogenic | -1.232 | Destabilizing | 0.983 | D | 0.657 | neutral | 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.