Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7996 | 24211;24212;24213 | chr2:178719404;178719403;178719402 | chr2:179584131;179584130;179584129 |
| N2AB | 7679 | 23260;23261;23262 | chr2:178719404;178719403;178719402 | chr2:179584131;179584130;179584129 |
| N2A | 6752 | 20479;20480;20481 | chr2:178719404;178719403;178719402 | chr2:179584131;179584130;179584129 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/D | None | None | 0.042 | N | 0.483 | 0.336 | 0.488055169367 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/P | None | None | 0.301 | N | 0.592 | 0.296 | 0.37479162749 | gnomAD-4.0.0 | 6.84356E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.997E-07 | 0 | 0 |
| A/S | rs879233655  |
None | None | N | 0.15 | 0.148 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/S | rs879233655 |
None | None | N | 0.15 | 0.148 | None | 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/S | rs879233655 |
None | None | N | 0.15 | 0.148 | None | gnomAD-4.0.0 | 6.19855E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47843E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3844 | ambiguous | 0.337 | benign | -1.114 | Destabilizing | 0.883 | D | 0.543 | neutral | None | None | None | None | I |
| A/D | 0.3166 | likely_benign | 0.3295 | benign | -1.537 | Destabilizing | 0.042 | N | 0.483 | neutral | N | 0.498680399 | None | None | I |
| A/E | 0.3226 | likely_benign | 0.3157 | benign | -1.538 | Destabilizing | 0.002 | N | 0.261 | neutral | None | None | None | None | I |
| A/F | 0.3702 | ambiguous | 0.3823 | ambiguous | -1.089 | Destabilizing | 0.497 | N | 0.616 | neutral | None | None | None | None | I |
| A/G | 0.079 | likely_benign | 0.0721 | benign | -1.36 | Destabilizing | None | N | 0.108 | neutral | N | 0.438362659 | None | None | I |
| A/H | 0.4931 | ambiguous | 0.4769 | ambiguous | -1.589 | Destabilizing | 0.667 | D | 0.593 | neutral | None | None | None | None | I |
| A/I | 0.2379 | likely_benign | 0.2659 | benign | -0.385 | Destabilizing | 0.124 | N | 0.585 | neutral | None | None | None | None | I |
| A/K | 0.4689 | ambiguous | 0.4656 | ambiguous | -1.476 | Destabilizing | 0.055 | N | 0.467 | neutral | None | None | None | None | I |
| A/L | 0.2103 | likely_benign | 0.2325 | benign | -0.385 | Destabilizing | 0.055 | N | 0.454 | neutral | None | None | None | None | I |
| A/M | 0.2444 | likely_benign | 0.2843 | benign | -0.326 | Destabilizing | 0.025 | N | 0.373 | neutral | None | None | None | None | I |
| A/N | 0.2839 | likely_benign | 0.2813 | benign | -1.254 | Destabilizing | 0.124 | N | 0.535 | neutral | None | None | None | None | I |
| A/P | 0.4418 | ambiguous | 0.4792 | ambiguous | -0.568 | Destabilizing | 0.301 | N | 0.592 | neutral | N | 0.506651556 | None | None | I |
| A/Q | 0.4043 | ambiguous | 0.3948 | ambiguous | -1.368 | Destabilizing | 0.22 | N | 0.593 | neutral | None | None | None | None | I |
| A/R | 0.4108 | ambiguous | 0.3984 | ambiguous | -1.141 | Destabilizing | 0.22 | N | 0.591 | neutral | None | None | None | None | I |
| A/S | 0.0948 | likely_benign | 0.0912 | benign | -1.612 | Destabilizing | None | N | 0.15 | neutral | N | 0.474552745 | None | None | I |
| A/T | 0.087 | likely_benign | 0.0902 | benign | -1.512 | Destabilizing | None | N | 0.142 | neutral | N | 0.425644077 | None | None | I |
| A/V | 0.1221 | likely_benign | 0.1317 | benign | -0.568 | Destabilizing | 0.042 | N | 0.397 | neutral | N | 0.378287274 | None | None | I |
| A/W | 0.7232 | likely_pathogenic | 0.7416 | pathogenic | -1.493 | Destabilizing | 0.958 | D | 0.579 | neutral | None | None | None | None | I |
| A/Y | 0.4569 | ambiguous | 0.4561 | ambiguous | -1.082 | Destabilizing | 0.667 | D | 0.607 | 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.