Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19193 | 57802;57803;57804 | chr2:178595777;178595776;178595775 | chr2:179460504;179460503;179460502 |
| N2AB | 17552 | 52879;52880;52881 | chr2:178595777;178595776;178595775 | chr2:179460504;179460503;179460502 |
| N2A | 16625 | 50098;50099;50100 | chr2:178595777;178595776;178595775 | chr2:179460504;179460503;179460502 |
| N2B | 10128 | 30607;30608;30609 | chr2:178595777;178595776;178595775 | chr2:179460504;179460503;179460502 |
| Novex-1 | 10253 | 30982;30983;30984 | chr2:178595777;178595776;178595775 | chr2:179460504;179460503;179460502 |
| Novex-2 | 10320 | 31183;31184;31185 | chr2:178595777;178595776;178595775 | chr2:179460504;179460503;179460502 |
| 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 | rs2051397656  |
None | None | N | 0.183 | 0.205 | 0.0884992946249 | gnomAD-4.0.0 | 1.3744E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80352E-06 | 0 | 0 |
| A/V | None | None | 0.001 | N | 0.241 | 0.103 | 0.331876078066 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 | 0.2933 | likely_benign | 0.2997 | benign | -0.618 | Destabilizing | 0.356 | N | 0.61 | neutral | None | None | None | None | N |
| A/D | 0.537 | ambiguous | 0.7094 | pathogenic | -1.101 | Destabilizing | None | N | 0.485 | neutral | N | 0.52133268 | None | None | N |
| A/E | 0.4368 | ambiguous | 0.6264 | pathogenic | -1.14 | Destabilizing | 0.016 | N | 0.485 | neutral | None | None | None | None | N |
| A/F | 0.3502 | ambiguous | 0.3912 | ambiguous | -0.917 | Destabilizing | 0.356 | N | 0.7 | prob.neutral | None | None | None | None | N |
| A/G | 0.1369 | likely_benign | 0.1818 | benign | -1.02 | Destabilizing | None | N | 0.121 | neutral | N | 0.477368472 | None | None | N |
| A/H | 0.5548 | ambiguous | 0.6519 | pathogenic | -1.2 | Destabilizing | 0.356 | N | 0.701 | prob.neutral | None | None | None | None | N |
| A/I | 0.2103 | likely_benign | 0.2301 | benign | -0.276 | Destabilizing | 0.038 | N | 0.604 | neutral | None | None | None | None | N |
| A/K | 0.6188 | likely_pathogenic | 0.7701 | pathogenic | -1.172 | Destabilizing | 0.038 | N | 0.55 | neutral | None | None | None | None | N |
| A/L | 0.1995 | likely_benign | 0.2313 | benign | -0.276 | Destabilizing | 0.016 | N | 0.492 | neutral | None | None | None | None | N |
| A/M | 0.2669 | likely_benign | 0.2968 | benign | -0.178 | Destabilizing | 0.356 | N | 0.66 | neutral | None | None | None | None | N |
| A/N | 0.4135 | ambiguous | 0.5048 | ambiguous | -0.791 | Destabilizing | 0.038 | N | 0.615 | neutral | None | None | None | None | N |
| A/P | 0.0985 | likely_benign | 0.1717 | benign | -0.403 | Destabilizing | None | N | 0.356 | neutral | N | 0.433887054 | None | None | N |
| A/Q | 0.4771 | ambiguous | 0.6094 | pathogenic | -0.947 | Destabilizing | 0.214 | N | 0.713 | prob.delet. | None | None | None | None | N |
| A/R | 0.5842 | likely_pathogenic | 0.7335 | pathogenic | -0.797 | Destabilizing | 0.072 | N | 0.705 | prob.neutral | None | None | None | None | N |
| A/S | 0.107 | likely_benign | 0.1133 | benign | -1.081 | Destabilizing | None | N | 0.145 | neutral | N | 0.496127591 | None | None | N |
| A/T | 0.0915 | likely_benign | 0.1 | benign | -1.028 | Destabilizing | None | N | 0.183 | neutral | N | 0.472866729 | None | None | N |
| A/V | 0.1237 | likely_benign | 0.1306 | benign | -0.403 | Destabilizing | 0.001 | N | 0.241 | neutral | N | 0.396477885 | None | None | N |
| A/W | 0.6733 | likely_pathogenic | 0.765 | pathogenic | -1.271 | Destabilizing | 0.864 | D | 0.728 | prob.delet. | None | None | None | None | N |
| A/Y | 0.4709 | ambiguous | 0.5392 | ambiguous | -0.872 | Destabilizing | 0.356 | N | 0.703 | prob.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.