Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16199 | 48820;48821;48822 | chr2:178615350;178615349;178615348 | chr2:179480077;179480076;179480075 |
| N2AB | 14558 | 43897;43898;43899 | chr2:178615350;178615349;178615348 | chr2:179480077;179480076;179480075 |
| N2A | 13631 | 41116;41117;41118 | chr2:178615350;178615349;178615348 | chr2:179480077;179480076;179480075 |
| N2B | 7134 | 21625;21626;21627 | chr2:178615350;178615349;178615348 | chr2:179480077;179480076;179480075 |
| Novex-1 | 7259 | 22000;22001;22002 | chr2:178615350;178615349;178615348 | chr2:179480077;179480076;179480075 |
| Novex-2 | 7326 | 22201;22202;22203 | chr2:178615350;178615349;178615348 | chr2:179480077;179480076;179480075 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs752629624  |
-0.474 | 0.891 | N | 0.335 | 0.203 | None | gnomAD-2.1.1 | 5.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.17439E-04 | 0 |
| S/P | rs752629624 |
-0.474 | 0.891 | N | 0.335 | 0.203 | None | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47236E-04 | 0 | 0 |
| S/P | rs752629624 |
-0.474 | 0.891 | N | 0.335 | 0.203 | None | gnomAD-4.0.0 | 1.09157E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4334E-04 | 0 | 1.12205E-04 |
| S/Y | None | None | 0.989 | D | 0.369 | 0.353 | 0.564541561611 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1065 | likely_benign | 0.1014 | benign | -0.22 | Destabilizing | 0.267 | N | 0.205 | neutral | N | 0.457855993 | None | None | N |
| S/C | 0.1458 | likely_benign | 0.1318 | benign | -0.14 | Destabilizing | 0.997 | D | 0.29 | neutral | N | 0.506989808 | None | None | N |
| S/D | 0.3997 | ambiguous | 0.4128 | ambiguous | 0.015 | Stabilizing | 0.842 | D | 0.297 | neutral | None | None | None | None | N |
| S/E | 0.4582 | ambiguous | 0.4493 | ambiguous | -0.089 | Destabilizing | 0.525 | D | 0.301 | neutral | None | None | None | None | N |
| S/F | 0.3402 | ambiguous | 0.3112 | benign | -0.839 | Destabilizing | 0.966 | D | 0.368 | neutral | N | 0.473253586 | None | None | N |
| S/G | 0.1138 | likely_benign | 0.1043 | benign | -0.317 | Destabilizing | 0.688 | D | 0.295 | neutral | None | None | None | None | N |
| S/H | 0.436 | ambiguous | 0.4147 | ambiguous | -0.795 | Destabilizing | 0.974 | D | 0.292 | neutral | None | None | None | None | N |
| S/I | 0.2625 | likely_benign | 0.2373 | benign | -0.1 | Destabilizing | 0.842 | D | 0.321 | neutral | None | None | None | None | N |
| S/K | 0.6499 | likely_pathogenic | 0.6344 | pathogenic | -0.465 | Destabilizing | 0.525 | D | 0.291 | neutral | None | None | None | None | N |
| S/L | 0.1218 | likely_benign | 0.1191 | benign | -0.1 | Destabilizing | 0.525 | D | 0.258 | neutral | None | None | None | None | N |
| S/M | 0.1836 | likely_benign | 0.185 | benign | 0.105 | Stabilizing | 0.991 | D | 0.291 | neutral | None | None | None | None | N |
| S/N | 0.1547 | likely_benign | 0.1597 | benign | -0.091 | Destabilizing | 0.842 | D | 0.343 | neutral | None | None | None | None | N |
| S/P | 0.8153 | likely_pathogenic | 0.7547 | pathogenic | -0.112 | Destabilizing | 0.891 | D | 0.335 | neutral | N | 0.47483269 | None | None | N |
| S/Q | 0.4772 | ambiguous | 0.4643 | ambiguous | -0.357 | Destabilizing | 0.172 | N | 0.173 | neutral | None | None | None | None | N |
| S/R | 0.6509 | likely_pathogenic | 0.6023 | pathogenic | -0.22 | Destabilizing | 0.842 | D | 0.31 | neutral | None | None | None | None | N |
| S/T | 0.066 | likely_benign | 0.0695 | benign | -0.192 | Destabilizing | 0.007 | N | 0.107 | neutral | N | 0.358423502 | None | None | N |
| S/V | 0.2207 | likely_benign | 0.2061 | benign | -0.112 | Destabilizing | 0.525 | D | 0.282 | neutral | None | None | None | None | N |
| S/W | 0.5244 | ambiguous | 0.4632 | ambiguous | -0.892 | Destabilizing | 0.998 | D | 0.407 | neutral | None | None | None | None | N |
| S/Y | 0.3314 | likely_benign | 0.3063 | benign | -0.602 | Destabilizing | 0.989 | D | 0.369 | neutral | D | 0.530662421 | 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.