Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21828 | 65707;65708;65709 | chr2:178583700;178583699;178583698 | chr2:179448427;179448426;179448425 |
| N2AB | 20187 | 60784;60785;60786 | chr2:178583700;178583699;178583698 | chr2:179448427;179448426;179448425 |
| N2A | 19260 | 58003;58004;58005 | chr2:178583700;178583699;178583698 | chr2:179448427;179448426;179448425 |
| N2B | 12763 | 38512;38513;38514 | chr2:178583700;178583699;178583698 | chr2:179448427;179448426;179448425 |
| Novex-1 | 12888 | 38887;38888;38889 | chr2:178583700;178583699;178583698 | chr2:179448427;179448426;179448425 |
| Novex-2 | 12955 | 39088;39089;39090 | chr2:178583700;178583699;178583698 | chr2:179448427;179448426;179448425 |
| 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/G | None | None | 0.891 | N | 0.479 | 0.104 | 0.227260227426 | gnomAD-4.0.0 | 6.84825E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99912E-06 | 0 | 0 |
| A/T | rs1294321352  |
None | 0.801 | N | 0.543 | 0.24 | 0.17258766438 | gnomAD-4.0.0 | 1.59466E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43674E-05 | 0 |
| A/V | None | None | 0.891 | N | 0.545 | 0.157 | 0.351830644314 | gnomAD-4.0.0 | 6.84825E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99912E-07 | 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 | 0.3802 | ambiguous | 0.3451 | ambiguous | -0.965 | Destabilizing | 0.998 | D | 0.549 | neutral | None | None | None | None | N |
| A/D | 0.2369 | likely_benign | 0.2283 | benign | -1.734 | Destabilizing | 0.669 | D | 0.542 | neutral | N | 0.495586086 | None | None | N |
| A/E | 0.1911 | likely_benign | 0.1807 | benign | -1.662 | Destabilizing | 0.016 | N | 0.297 | neutral | None | None | None | None | N |
| A/F | 0.3618 | ambiguous | 0.3204 | benign | -0.885 | Destabilizing | 0.991 | D | 0.549 | neutral | None | None | None | None | N |
| A/G | 0.1184 | likely_benign | 0.1184 | benign | -1.403 | Destabilizing | 0.891 | D | 0.479 | neutral | N | 0.458587923 | None | None | N |
| A/H | 0.4662 | ambiguous | 0.434 | ambiguous | -1.708 | Destabilizing | 0.974 | D | 0.536 | neutral | None | None | None | None | N |
| A/I | 0.3106 | likely_benign | 0.2323 | benign | -0.133 | Destabilizing | 0.974 | D | 0.597 | neutral | None | None | None | None | N |
| A/K | 0.455 | ambiguous | 0.4247 | ambiguous | -1.322 | Destabilizing | 0.067 | N | 0.299 | neutral | None | None | None | None | N |
| A/L | 0.2291 | likely_benign | 0.1828 | benign | -0.133 | Destabilizing | 0.842 | D | 0.537 | neutral | None | None | None | None | N |
| A/M | 0.2157 | likely_benign | 0.1696 | benign | -0.159 | Destabilizing | 0.991 | D | 0.541 | neutral | None | None | None | None | N |
| A/N | 0.2481 | likely_benign | 0.2198 | benign | -1.242 | Destabilizing | 0.949 | D | 0.564 | neutral | None | None | None | None | N |
| A/P | 0.8631 | likely_pathogenic | 0.8597 | pathogenic | -0.39 | Destabilizing | 0.966 | D | 0.595 | neutral | N | 0.481207834 | None | None | N |
| A/Q | 0.255 | likely_benign | 0.2436 | benign | -1.259 | Destabilizing | 0.172 | N | 0.293 | neutral | None | None | None | None | N |
| A/R | 0.4143 | ambiguous | 0.4136 | ambiguous | -1.128 | Destabilizing | 0.728 | D | 0.557 | neutral | None | None | None | None | N |
| A/S | 0.08 | likely_benign | 0.0807 | benign | -1.633 | Destabilizing | 0.625 | D | 0.483 | neutral | N | 0.434324197 | None | None | N |
| A/T | 0.0859 | likely_benign | 0.0749 | benign | -1.456 | Destabilizing | 0.801 | D | 0.543 | neutral | N | 0.395029516 | None | None | N |
| A/V | 0.1458 | likely_benign | 0.119 | benign | -0.39 | Destabilizing | 0.891 | D | 0.545 | neutral | N | 0.439770089 | None | None | N |
| A/W | 0.7451 | likely_pathogenic | 0.7155 | pathogenic | -1.45 | Destabilizing | 0.998 | D | 0.6 | neutral | None | None | None | None | N |
| A/Y | 0.4815 | ambiguous | 0.4312 | ambiguous | -0.957 | Destabilizing | 0.991 | D | 0.571 | 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.