Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15038 | 45337;45338;45339 | chr2:178621712;178621711;178621710 | chr2:179486439;179486438;179486437 |
| N2AB | 13397 | 40414;40415;40416 | chr2:178621712;178621711;178621710 | chr2:179486439;179486438;179486437 |
| N2A | 12470 | 37633;37634;37635 | chr2:178621712;178621711;178621710 | chr2:179486439;179486438;179486437 |
| N2B | 5973 | 18142;18143;18144 | chr2:178621712;178621711;178621710 | chr2:179486439;179486438;179486437 |
| Novex-1 | 6098 | 18517;18518;18519 | chr2:178621712;178621711;178621710 | chr2:179486439;179486438;179486437 |
| Novex-2 | 6165 | 18718;18719;18720 | chr2:178621712;178621711;178621710 | chr2:179486439;179486438;179486437 |
| 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 | rs368158748  |
-0.234 | None | N | 0.112 | 0.12 | None | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.07E-06 | 0 |
| A/G | rs368158748 |
-0.234 | None | N | 0.112 | 0.12 | None | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| A/V | rs368158748 |
None | 0.029 | N | 0.263 | 0.083 | 0.206339911435 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs368158748 |
None | 0.029 | N | 0.263 | 0.083 | 0.206339911435 | gnomAD-4.0.0 | 4.06112E-06 | None | None | None | None | N | None | 3.49773E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41027E-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 | 0.4831 | ambiguous | 0.5726 | pathogenic | -0.799 | Destabilizing | 0.676 | D | 0.391 | neutral | None | None | None | None | N |
| A/D | 0.1773 | likely_benign | 0.2145 | benign | -0.416 | Destabilizing | 0.029 | N | 0.409 | neutral | N | 0.440833182 | None | None | N |
| A/E | 0.1698 | likely_benign | 0.2059 | benign | -0.544 | Destabilizing | 0.072 | N | 0.38 | neutral | None | None | None | None | N |
| A/F | 0.3362 | likely_benign | 0.3826 | ambiguous | -0.872 | Destabilizing | 0.214 | N | 0.467 | neutral | None | None | None | None | N |
| A/G | 0.0767 | likely_benign | 0.1067 | benign | -0.514 | Destabilizing | None | N | 0.112 | neutral | N | 0.485874815 | None | None | N |
| A/H | 0.3605 | ambiguous | 0.446 | ambiguous | -0.594 | Destabilizing | 0.001 | N | 0.303 | neutral | None | None | None | None | N |
| A/I | 0.2251 | likely_benign | 0.2887 | benign | -0.313 | Destabilizing | 0.038 | N | 0.475 | neutral | None | None | None | None | N |
| A/K | 0.2731 | likely_benign | 0.3911 | ambiguous | -0.765 | Destabilizing | 0.038 | N | 0.391 | neutral | None | None | None | None | N |
| A/L | 0.1421 | likely_benign | 0.1819 | benign | -0.313 | Destabilizing | 0.016 | N | 0.38 | neutral | None | None | None | None | N |
| A/M | 0.227 | likely_benign | 0.2792 | benign | -0.384 | Destabilizing | 0.016 | N | 0.347 | neutral | None | None | None | None | N |
| A/N | 0.1535 | likely_benign | 0.2038 | benign | -0.436 | Destabilizing | None | N | 0.283 | neutral | None | None | None | None | N |
| A/P | 0.1249 | likely_benign | 0.1645 | benign | -0.307 | Destabilizing | None | N | 0.153 | neutral | N | 0.395515053 | None | None | N |
| A/Q | 0.1992 | likely_benign | 0.2595 | benign | -0.677 | Destabilizing | 0.214 | N | 0.472 | neutral | None | None | None | None | N |
| A/R | 0.2443 | likely_benign | 0.335 | benign | -0.349 | Destabilizing | 0.072 | N | 0.453 | neutral | None | None | None | None | N |
| A/S | 0.0743 | likely_benign | 0.0824 | benign | -0.689 | Destabilizing | 0.001 | N | 0.129 | neutral | N | 0.372897332 | None | None | N |
| A/T | 0.0768 | likely_benign | 0.0907 | benign | -0.728 | Destabilizing | None | N | 0.169 | neutral | N | 0.397898845 | None | None | N |
| A/V | 0.1229 | likely_benign | 0.1432 | benign | -0.307 | Destabilizing | 0.029 | N | 0.263 | neutral | N | 0.451579594 | None | None | N |
| A/W | 0.6229 | likely_pathogenic | 0.7279 | pathogenic | -1.053 | Destabilizing | 0.864 | D | 0.462 | neutral | None | None | None | None | N |
| A/Y | 0.4284 | ambiguous | 0.5069 | ambiguous | -0.689 | Destabilizing | 0.214 | N | 0.46 | 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.