Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27933 | 84022;84023;84024 | chr2:178562335;178562334;178562333 | chr2:179427062;179427061;179427060 |
| N2AB | 26292 | 79099;79100;79101 | chr2:178562335;178562334;178562333 | chr2:179427062;179427061;179427060 |
| N2A | 25365 | 76318;76319;76320 | chr2:178562335;178562334;178562333 | chr2:179427062;179427061;179427060 |
| N2B | 18868 | 56827;56828;56829 | chr2:178562335;178562334;178562333 | chr2:179427062;179427061;179427060 |
| Novex-1 | 18993 | 57202;57203;57204 | chr2:178562335;178562334;178562333 | chr2:179427062;179427061;179427060 |
| Novex-2 | 19060 | 57403;57404;57405 | chr2:178562335;178562334;178562333 | chr2:179427062;179427061;179427060 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs879145639  |
-2.231 | None | N | 0.279 | 0.069 | 0.290222751274 | gnomAD-2.1.1 | 7.21E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| V/A | rs879145639 |
-2.231 | None | N | 0.279 | 0.069 | 0.290222751274 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs879145639 |
-2.231 | None | N | 0.279 | 0.069 | 0.290222751274 | gnomAD-4.0.0 | 9.92531E-06 | None | None | None | None | N | None | 0 | 1.67191E-05 | None | 0 | 0 | None | 0 | 0 | 1.27201E-05 | 0 | 0 |
| V/L | None | None | 0.002 | N | 0.501 | 0.044 | 0.324161360171 | gnomAD-4.0.0 | 1.59613E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86393E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0992 | likely_benign | 0.1134 | benign | -1.799 | Destabilizing | None | N | 0.279 | neutral | N | 0.448120213 | None | None | N |
| V/C | 0.4009 | ambiguous | 0.4557 | ambiguous | -1.006 | Destabilizing | 0.356 | N | 0.63 | neutral | None | None | None | None | N |
| V/D | 0.2566 | likely_benign | 0.2989 | benign | -2.613 | Highly Destabilizing | 0.012 | N | 0.631 | neutral | N | 0.480424633 | None | None | N |
| V/E | 0.246 | likely_benign | 0.2822 | benign | -2.35 | Highly Destabilizing | None | N | 0.491 | neutral | None | None | None | None | N |
| V/F | 0.0935 | likely_benign | 0.1097 | benign | -1.019 | Destabilizing | 0.171 | N | 0.661 | neutral | N | 0.423397914 | None | None | N |
| V/G | 0.1375 | likely_benign | 0.1547 | benign | -2.341 | Highly Destabilizing | 0.012 | N | 0.598 | neutral | N | 0.515614642 | None | None | N |
| V/H | 0.3059 | likely_benign | 0.3528 | ambiguous | -2.283 | Highly Destabilizing | 0.356 | N | 0.646 | neutral | None | None | None | None | N |
| V/I | 0.0614 | likely_benign | 0.0634 | benign | -0.258 | Destabilizing | None | N | 0.273 | neutral | N | 0.438500653 | None | None | N |
| V/K | 0.3265 | likely_benign | 0.3948 | ambiguous | -1.385 | Destabilizing | 0.016 | N | 0.609 | neutral | None | None | None | None | N |
| V/L | 0.0797 | likely_benign | 0.0888 | benign | -0.258 | Destabilizing | 0.002 | N | 0.501 | neutral | N | 0.419914892 | None | None | N |
| V/M | 0.0805 | likely_benign | 0.0889 | benign | -0.306 | Destabilizing | 0.214 | N | 0.573 | neutral | None | None | None | None | N |
| V/N | 0.1055 | likely_benign | 0.1185 | benign | -1.849 | Destabilizing | 0.072 | N | 0.643 | neutral | None | None | None | None | N |
| V/P | 0.7974 | likely_pathogenic | 0.8416 | pathogenic | -0.749 | Destabilizing | 0.136 | N | 0.632 | neutral | None | None | None | None | N |
| V/Q | 0.2095 | likely_benign | 0.236 | benign | -1.602 | Destabilizing | 0.038 | N | 0.647 | neutral | None | None | None | None | N |
| V/R | 0.2663 | likely_benign | 0.3288 | benign | -1.401 | Destabilizing | 0.072 | N | 0.636 | neutral | None | None | None | None | N |
| V/S | 0.081 | likely_benign | 0.0918 | benign | -2.36 | Highly Destabilizing | None | N | 0.485 | neutral | None | None | None | None | N |
| V/T | 0.0805 | likely_benign | 0.0934 | benign | -1.961 | Destabilizing | None | N | 0.285 | neutral | None | None | None | None | N |
| V/W | 0.5702 | likely_pathogenic | 0.6377 | pathogenic | -1.652 | Destabilizing | 0.864 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/Y | 0.2703 | likely_benign | 0.3146 | benign | -1.196 | Destabilizing | 0.356 | N | 0.643 | 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.