Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28931 | 87016;87017;87018 | chr2:178559341;178559340;178559339 | chr2:179424068;179424067;179424066 |
| N2AB | 27290 | 82093;82094;82095 | chr2:178559341;178559340;178559339 | chr2:179424068;179424067;179424066 |
| N2A | 26363 | 79312;79313;79314 | chr2:178559341;178559340;178559339 | chr2:179424068;179424067;179424066 |
| N2B | 19866 | 59821;59822;59823 | chr2:178559341;178559340;178559339 | chr2:179424068;179424067;179424066 |
| Novex-1 | 19991 | 60196;60197;60198 | chr2:178559341;178559340;178559339 | chr2:179424068;179424067;179424066 |
| Novex-2 | 20058 | 60397;60398;60399 | chr2:178559341;178559340;178559339 | chr2:179424068;179424067;179424066 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs774479678  |
-1.52 | 0.113 | N | 0.522 | 0.156 | 0.110078149338 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs774479678 |
-1.52 | 0.113 | N | 0.522 | 0.156 | 0.110078149338 | gnomAD-4.0.0 | 1.2499E-06 | None | None | None | None | N | None | 2.69644E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 0.005 | N | 0.339 | 0.055 | 0.0884992946249 | gnomAD-4.0.0 | 1.20035E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31253E-06 | 0 | 0 |
| A/V | None | None | 0.047 | N | 0.208 | 0.072 | 0.178374595973 | gnomAD-4.0.0 | 6.90584E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.05107E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2605 | likely_benign | 0.2805 | benign | -1.063 | Destabilizing | 0.989 | D | 0.608 | neutral | None | None | None | None | N |
| A/D | 0.4618 | ambiguous | 0.4348 | ambiguous | -1.7 | Destabilizing | 0.902 | D | 0.686 | prob.neutral | N | 0.482379014 | None | None | N |
| A/E | 0.3192 | likely_benign | 0.2984 | benign | -1.687 | Destabilizing | 0.83 | D | 0.648 | neutral | None | None | None | None | N |
| A/F | 0.2929 | likely_benign | 0.2731 | benign | -1.058 | Destabilizing | 0.979 | D | 0.667 | neutral | None | None | None | None | N |
| A/G | 0.1328 | likely_benign | 0.1377 | benign | -1.47 | Destabilizing | 0.113 | N | 0.522 | neutral | N | 0.470008751 | None | None | N |
| A/H | 0.4785 | ambiguous | 0.4661 | ambiguous | -1.625 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| A/I | 0.1879 | likely_benign | 0.1578 | benign | -0.457 | Destabilizing | 0.039 | N | 0.462 | neutral | None | None | None | None | N |
| A/K | 0.4585 | ambiguous | 0.4176 | ambiguous | -1.453 | Destabilizing | 0.929 | D | 0.647 | neutral | None | None | None | None | N |
| A/L | 0.1674 | likely_benign | 0.1464 | benign | -0.457 | Destabilizing | 0.039 | N | 0.428 | neutral | None | None | None | None | N |
| A/M | 0.1732 | likely_benign | 0.1544 | benign | -0.405 | Destabilizing | 0.979 | D | 0.653 | neutral | None | None | None | None | N |
| A/N | 0.3256 | likely_benign | 0.3067 | benign | -1.236 | Destabilizing | 0.589 | D | 0.679 | prob.neutral | None | None | None | None | N |
| A/P | 0.8816 | likely_pathogenic | 0.8633 | pathogenic | -0.653 | Destabilizing | 0.949 | D | 0.689 | prob.neutral | N | 0.481872035 | None | None | N |
| A/Q | 0.332 | likely_benign | 0.3164 | benign | -1.358 | Destabilizing | 0.989 | D | 0.683 | prob.neutral | None | None | None | None | N |
| A/R | 0.3873 | ambiguous | 0.3553 | ambiguous | -1.123 | Destabilizing | 0.979 | D | 0.675 | neutral | None | None | None | None | N |
| A/S | 0.0973 | likely_benign | 0.0992 | benign | -1.6 | Destabilizing | 0.003 | N | 0.303 | neutral | N | 0.423591836 | None | None | N |
| A/T | 0.0758 | likely_benign | 0.0738 | benign | -1.499 | Destabilizing | 0.005 | N | 0.339 | neutral | N | 0.517206578 | None | None | N |
| A/V | 0.0974 | likely_benign | 0.0859 | benign | -0.653 | Destabilizing | 0.047 | N | 0.208 | neutral | N | 0.467009831 | None | None | N |
| A/W | 0.6736 | likely_pathogenic | 0.6687 | pathogenic | -1.47 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| A/Y | 0.4224 | ambiguous | 0.4099 | ambiguous | -1.074 | Destabilizing | 0.989 | D | 0.664 | 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.