Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23521 | 70786;70787;70788 | chr2:178575571;178575570;178575569 | chr2:179440298;179440297;179440296 |
| N2AB | 21880 | 65863;65864;65865 | chr2:178575571;178575570;178575569 | chr2:179440298;179440297;179440296 |
| N2A | 20953 | 63082;63083;63084 | chr2:178575571;178575570;178575569 | chr2:179440298;179440297;179440296 |
| N2B | 14456 | 43591;43592;43593 | chr2:178575571;178575570;178575569 | chr2:179440298;179440297;179440296 |
| Novex-1 | 14581 | 43966;43967;43968 | chr2:178575571;178575570;178575569 | chr2:179440298;179440297;179440296 |
| Novex-2 | 14648 | 44167;44168;44169 | chr2:178575571;178575570;178575569 | chr2:179440298;179440297;179440296 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs775589244  |
-0.005 | 0.012 | N | 0.467 | 0.125 | 0.17258766438 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs775589244 |
-0.005 | 0.012 | N | 0.467 | 0.125 | 0.17258766438 | gnomAD-4.0.0 | 6.84256E-07 | None | None | None | None | I | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs1007385866 |
None | 0.055 | N | 0.501 | 0.108 | 0.0297737177859 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/P | rs1007385866 |
None | 0.055 | N | 0.501 | 0.108 | 0.0297737177859 | gnomAD-4.0.0 | 6.5735E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47067E-05 | 0 | 0 |
| T/R | rs775589244 |
-0.644 | None | N | 0.4 | 0.118 | None | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | I | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 5.34E-05 | 0 |
| T/R | rs775589244 |
-0.644 | None | N | 0.4 | 0.118 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/R | rs775589244 |
-0.644 | None | N | 0.4 | 0.118 | None | gnomAD-4.0.0 | 1.73537E-05 | None | None | None | None | I | None | 0 | 3.33456E-05 | None | 0 | 0 | None | 0 | 1.64582E-04 | 1.78017E-05 | 0 | 6.40492E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0491 | likely_benign | 0.0537 | benign | -0.824 | Destabilizing | None | N | 0.163 | neutral | N | 0.408038886 | None | None | I |
| T/C | 0.1937 | likely_benign | 0.2071 | benign | -0.652 | Destabilizing | 0.356 | N | 0.501 | neutral | None | None | None | None | I |
| T/D | 0.4565 | ambiguous | 0.5633 | ambiguous | -0.401 | Destabilizing | 0.072 | N | 0.497 | neutral | None | None | None | None | I |
| T/E | 0.2679 | likely_benign | 0.3584 | ambiguous | -0.323 | Destabilizing | 0.016 | N | 0.451 | neutral | None | None | None | None | I |
| T/F | 0.2348 | likely_benign | 0.2664 | benign | -0.575 | Destabilizing | 0.214 | N | 0.555 | neutral | None | None | None | None | I |
| T/G | 0.1601 | likely_benign | 0.1911 | benign | -1.165 | Destabilizing | 0.016 | N | 0.537 | neutral | None | None | None | None | I |
| T/H | 0.3037 | likely_benign | 0.3456 | ambiguous | -1.367 | Destabilizing | 0.356 | N | 0.525 | neutral | None | None | None | None | I |
| T/I | 0.1066 | likely_benign | 0.1259 | benign | 0.015 | Stabilizing | 0.012 | N | 0.467 | neutral | N | 0.520516242 | None | None | I |
| T/K | 0.2086 | likely_benign | 0.2686 | benign | -0.786 | Destabilizing | 0.012 | N | 0.455 | neutral | N | 0.48324872 | None | None | I |
| T/L | 0.0963 | likely_benign | 0.1093 | benign | 0.015 | Stabilizing | 0.016 | N | 0.461 | neutral | None | None | None | None | I |
| T/M | 0.0809 | likely_benign | 0.0865 | benign | 0.042 | Stabilizing | 0.356 | N | 0.507 | neutral | None | None | None | None | I |
| T/N | 0.1557 | likely_benign | 0.1906 | benign | -0.943 | Destabilizing | 0.038 | N | 0.441 | neutral | None | None | None | None | I |
| T/P | 0.7055 | likely_pathogenic | 0.7529 | pathogenic | -0.231 | Destabilizing | 0.055 | N | 0.501 | neutral | N | 0.501834481 | None | None | I |
| T/Q | 0.1888 | likely_benign | 0.2299 | benign | -0.929 | Destabilizing | 0.072 | N | 0.539 | neutral | None | None | None | None | I |
| T/R | 0.1673 | likely_benign | 0.1879 | benign | -0.736 | Destabilizing | None | N | 0.4 | neutral | N | 0.50200784 | None | None | I |
| T/S | 0.0947 | likely_benign | 0.1073 | benign | -1.226 | Destabilizing | None | N | 0.211 | neutral | N | 0.360388507 | None | None | I |
| T/V | 0.0728 | likely_benign | 0.0791 | benign | -0.231 | Destabilizing | None | N | 0.197 | neutral | None | None | None | None | I |
| T/W | 0.6537 | likely_pathogenic | 0.6992 | pathogenic | -0.575 | Destabilizing | 0.864 | D | 0.557 | neutral | None | None | None | None | I |
| T/Y | 0.3113 | likely_benign | 0.3487 | ambiguous | -0.309 | Destabilizing | 0.356 | N | 0.536 | neutral | None | None | None | None | I |
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.