Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19460 | 58603;58604;58605 | chr2:178594015;178594014;178594013 | chr2:179458742;179458741;179458740 |
| N2AB | 17819 | 53680;53681;53682 | chr2:178594015;178594014;178594013 | chr2:179458742;179458741;179458740 |
| N2A | 16892 | 50899;50900;50901 | chr2:178594015;178594014;178594013 | chr2:179458742;179458741;179458740 |
| N2B | 10395 | 31408;31409;31410 | chr2:178594015;178594014;178594013 | chr2:179458742;179458741;179458740 |
| Novex-1 | 10520 | 31783;31784;31785 | chr2:178594015;178594014;178594013 | chr2:179458742;179458741;179458740 |
| Novex-2 | 10587 | 31984;31985;31986 | chr2:178594015;178594014;178594013 | chr2:179458742;179458741;179458740 |
| 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/I | rs770096744  |
-0.238 | None | N | 0.261 | 0.102 | 0.214338557667 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs770096744 |
-0.238 | None | N | 0.261 | 0.102 | 0.214338557667 | gnomAD-4.0.0 | 3.18339E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8659E-05 | 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 | 0.1676 | likely_benign | 0.1623 | benign | -1.63 | Destabilizing | 0.012 | N | 0.504 | neutral | N | 0.502520045 | None | None | N |
| V/C | 0.6916 | likely_pathogenic | 0.7002 | pathogenic | -1.057 | Destabilizing | 0.864 | D | 0.657 | neutral | None | None | None | None | N |
| V/D | 0.4387 | ambiguous | 0.4161 | ambiguous | -1.909 | Destabilizing | 0.029 | N | 0.721 | prob.delet. | N | 0.503027024 | None | None | N |
| V/E | 0.2679 | likely_benign | 0.2463 | benign | -1.748 | Destabilizing | 0.072 | N | 0.682 | prob.neutral | None | None | None | None | N |
| V/F | 0.1716 | likely_benign | 0.1752 | benign | -0.939 | Destabilizing | 0.171 | N | 0.712 | prob.delet. | D | 0.531963466 | None | None | N |
| V/G | 0.3465 | ambiguous | 0.3357 | benign | -2.103 | Highly Destabilizing | 0.055 | N | 0.703 | prob.neutral | N | 0.514890308 | None | None | N |
| V/H | 0.4586 | ambiguous | 0.4578 | ambiguous | -1.874 | Destabilizing | 0.001 | N | 0.649 | neutral | None | None | None | None | N |
| V/I | 0.0708 | likely_benign | 0.0727 | benign | -0.349 | Destabilizing | None | N | 0.261 | neutral | N | 0.483054798 | None | None | N |
| V/K | 0.2783 | likely_benign | 0.2593 | benign | -1.188 | Destabilizing | 0.001 | N | 0.627 | neutral | None | None | None | None | N |
| V/L | 0.1518 | likely_benign | 0.1548 | benign | -0.349 | Destabilizing | 0.002 | N | 0.429 | neutral | N | 0.505584941 | None | None | N |
| V/M | 0.1099 | likely_benign | 0.1095 | benign | -0.384 | Destabilizing | 0.007 | N | 0.421 | neutral | None | None | None | None | N |
| V/N | 0.295 | likely_benign | 0.2973 | benign | -1.321 | Destabilizing | 0.001 | N | 0.655 | neutral | None | None | None | None | N |
| V/P | 0.9655 | likely_pathogenic | 0.9654 | pathogenic | -0.746 | Destabilizing | 0.356 | N | 0.733 | prob.delet. | None | None | None | None | N |
| V/Q | 0.284 | likely_benign | 0.2786 | benign | -1.247 | Destabilizing | 0.214 | N | 0.735 | prob.delet. | None | None | None | None | N |
| V/R | 0.2431 | likely_benign | 0.2306 | benign | -1.013 | Destabilizing | 0.038 | N | 0.745 | deleterious | None | None | None | None | N |
| V/S | 0.2085 | likely_benign | 0.2047 | benign | -1.924 | Destabilizing | 0.016 | N | 0.671 | neutral | None | None | None | None | N |
| V/T | 0.1252 | likely_benign | 0.1182 | benign | -1.635 | Destabilizing | 0.001 | N | 0.285 | neutral | None | None | None | None | N |
| V/W | 0.7552 | likely_pathogenic | 0.7558 | pathogenic | -1.42 | Destabilizing | 0.864 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/Y | 0.506 | ambiguous | 0.5172 | ambiguous | -1.008 | Destabilizing | 0.214 | N | 0.712 | prob.delet. | 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.