Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15156 | 45691;45692;45693 | chr2:178621252;178621251;178621250 | chr2:179485979;179485978;179485977 |
| N2AB | 13515 | 40768;40769;40770 | chr2:178621252;178621251;178621250 | chr2:179485979;179485978;179485977 |
| N2A | 12588 | 37987;37988;37989 | chr2:178621252;178621251;178621250 | chr2:179485979;179485978;179485977 |
| N2B | 6091 | 18496;18497;18498 | chr2:178621252;178621251;178621250 | chr2:179485979;179485978;179485977 |
| Novex-1 | 6216 | 18871;18872;18873 | chr2:178621252;178621251;178621250 | chr2:179485979;179485978;179485977 |
| Novex-2 | 6283 | 19072;19073;19074 | chr2:178621252;178621251;178621250 | chr2:179485979;179485978;179485977 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1171217657  |
0.081 | 0.865 | N | 0.561 | 0.181 | 0.126345400529 | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.2E-05 | None | 0 | None | 0 | 7.86E-06 | 0 |
| D/G | rs1171217657 |
0.081 | 0.865 | N | 0.561 | 0.181 | 0.126345400529 | gnomAD-4.0.0 | 2.0543E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.06817E-05 | None | 0 | 0 | 8.9991E-07 | 0 | 0 |
| D/N | rs1375058579 |
None | 0.039 | N | 0.283 | 0.135 | 0.117506650769 | gnomAD-4.0.0 | 6.16297E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.09926E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3654 | ambiguous | 0.3267 | benign | 0.017 | Stabilizing | 0.978 | D | 0.577 | neutral | N | 0.48428284 | None | None | N |
| D/C | 0.8514 | likely_pathogenic | 0.7656 | pathogenic | -0.035 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/E | 0.2069 | likely_benign | 0.2031 | benign | -0.188 | Destabilizing | 0.928 | D | 0.483 | neutral | N | 0.482688665 | None | None | N |
| D/F | 0.8293 | likely_pathogenic | 0.772 | pathogenic | -0.103 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/G | 0.1778 | likely_benign | 0.1561 | benign | -0.102 | Destabilizing | 0.865 | D | 0.561 | neutral | N | 0.426659423 | None | None | N |
| D/H | 0.5303 | ambiguous | 0.4489 | ambiguous | 0.405 | Stabilizing | 0.994 | D | 0.619 | neutral | N | 0.515939573 | None | None | N |
| D/I | 0.6764 | likely_pathogenic | 0.6215 | pathogenic | 0.261 | Stabilizing | 0.992 | D | 0.687 | prob.neutral | None | None | None | None | N |
| D/K | 0.5431 | ambiguous | 0.4626 | ambiguous | 0.421 | Stabilizing | 0.968 | D | 0.621 | neutral | None | None | None | None | N |
| D/L | 0.6862 | likely_pathogenic | 0.6113 | pathogenic | 0.261 | Stabilizing | 0.983 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/M | 0.8082 | likely_pathogenic | 0.7503 | pathogenic | 0.124 | Stabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| D/N | 0.1158 | likely_benign | 0.1151 | benign | 0.293 | Stabilizing | 0.039 | N | 0.283 | neutral | N | 0.449762795 | None | None | N |
| D/P | 0.9428 | likely_pathogenic | 0.9113 | pathogenic | 0.199 | Stabilizing | 0.992 | D | 0.623 | neutral | None | None | None | None | N |
| D/Q | 0.4969 | ambiguous | 0.4147 | ambiguous | 0.285 | Stabilizing | 0.983 | D | 0.623 | neutral | None | None | None | None | N |
| D/R | 0.6148 | likely_pathogenic | 0.5096 | ambiguous | 0.622 | Stabilizing | 0.983 | D | 0.601 | neutral | None | None | None | None | N |
| D/S | 0.187 | likely_benign | 0.1679 | benign | 0.158 | Stabilizing | 0.895 | D | 0.522 | neutral | None | None | None | None | N |
| D/T | 0.4306 | ambiguous | 0.3806 | ambiguous | 0.25 | Stabilizing | 0.983 | D | 0.611 | neutral | None | None | None | None | N |
| D/V | 0.5143 | ambiguous | 0.4676 | ambiguous | 0.199 | Stabilizing | 0.989 | D | 0.679 | prob.neutral | D | 0.534528847 | None | None | N |
| D/W | 0.9599 | likely_pathogenic | 0.9326 | pathogenic | -0.07 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| D/Y | 0.5067 | ambiguous | 0.4473 | ambiguous | 0.12 | Stabilizing | 0.999 | D | 0.676 | prob.neutral | D | 0.634666734 | 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.