Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18988 | 57187;57188;57189 | chr2:178598748;178598654;178598653 | chr2:179463475;179463381;179463380 |
| N2AB | 17347 | 52264;52265;52266 | chr2:178598748;178598654;178598653 | chr2:179463475;179463381;179463380 |
| N2A | 16420 | 49483;49484;49485 | chr2:178598748;178598654;178598653 | chr2:179463475;179463381;179463380 |
| N2B | 9923 | 29992;29993;29994 | chr2:178598748;178598654;178598653 | chr2:179463475;179463381;179463380 |
| Novex-1 | 10048 | 30367;30368;30369 | chr2:178598748;178598654;178598653 | chr2:179463475;179463381;179463380 |
| Novex-2 | 10115 | 30568;30569;30570 | chr2:178598748;178598654;178598653 | chr2:179463475;179463381;179463380 |
| 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/T | rs773382779  |
-0.405 | 0.483 | N | 0.307 | 0.082 | 0.330589388543 | gnomAD-2.1.1 | 8.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| A/T | rs773382779 |
-0.405 | 0.483 | N | 0.307 | 0.082 | 0.330589388543 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs773382779 |
-0.405 | 0.483 | N | 0.307 | 0.082 | 0.330589388543 | gnomAD-4.0.0 | 1.15788E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.13913E-05 | 0 | 1.43908E-05 | 0 | 2.85551E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4562 | ambiguous | 0.3937 | ambiguous | -0.736 | Destabilizing | 0.995 | D | 0.265 | neutral | None | None | None | None | I |
| A/D | 0.3622 | ambiguous | 0.279 | benign | -0.477 | Destabilizing | 0.483 | N | 0.361 | neutral | N | 0.465717044 | None | None | I |
| A/E | 0.3443 | ambiguous | 0.2768 | benign | -0.638 | Destabilizing | 0.032 | N | 0.239 | neutral | None | None | None | None | I |
| A/F | 0.2798 | likely_benign | 0.2073 | benign | -0.982 | Destabilizing | 0.982 | D | 0.496 | neutral | None | None | None | None | I |
| A/G | 0.1645 | likely_benign | 0.1244 | benign | -0.307 | Destabilizing | 0.278 | N | 0.271 | neutral | N | 0.473469736 | None | None | I |
| A/H | 0.52 | ambiguous | 0.4246 | ambiguous | -0.342 | Destabilizing | 0.995 | D | 0.415 | neutral | None | None | None | None | I |
| A/I | 0.3076 | likely_benign | 0.2138 | benign | -0.386 | Destabilizing | 0.946 | D | 0.429 | neutral | None | None | None | None | I |
| A/K | 0.6715 | likely_pathogenic | 0.5296 | ambiguous | -0.472 | Destabilizing | 0.014 | N | 0.119 | neutral | None | None | None | None | I |
| A/L | 0.1749 | likely_benign | 0.1303 | benign | -0.386 | Destabilizing | 0.712 | D | 0.308 | neutral | None | None | None | None | I |
| A/M | 0.2428 | likely_benign | 0.2018 | benign | -0.307 | Destabilizing | 0.995 | D | 0.261 | neutral | None | None | None | None | I |
| A/N | 0.3136 | likely_benign | 0.2268 | benign | -0.201 | Destabilizing | 0.712 | D | 0.433 | neutral | None | None | None | None | I |
| A/P | 0.7924 | likely_pathogenic | 0.6457 | pathogenic | -0.317 | Destabilizing | 0.93 | D | 0.411 | neutral | N | 0.519031454 | None | None | I |
| A/Q | 0.4022 | ambiguous | 0.3275 | benign | -0.518 | Destabilizing | 0.897 | D | 0.391 | neutral | None | None | None | None | I |
| A/R | 0.6325 | likely_pathogenic | 0.4889 | ambiguous | -0.005 | Destabilizing | 0.553 | D | 0.447 | neutral | None | None | None | None | I |
| A/S | 0.082 | likely_benign | 0.0745 | benign | -0.396 | Destabilizing | 0.01 | N | 0.097 | neutral | N | 0.478222195 | None | None | I |
| A/T | 0.1079 | likely_benign | 0.0855 | benign | -0.482 | Destabilizing | 0.483 | N | 0.307 | neutral | N | 0.441128031 | None | None | I |
| A/V | 0.1707 | likely_benign | 0.1278 | benign | -0.317 | Destabilizing | 0.651 | D | 0.249 | neutral | N | 0.492690215 | None | None | I |
| A/W | 0.7742 | likely_pathogenic | 0.6777 | pathogenic | -1.092 | Destabilizing | 0.995 | D | 0.633 | neutral | None | None | None | None | I |
| A/Y | 0.4191 | ambiguous | 0.3263 | benign | -0.732 | Destabilizing | 0.982 | D | 0.487 | 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.