Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 157 | 694;695;696 | chr2:178800509;178800508;178800507 | chr2:179665236;179665235;179665234 |
| N2AB | 157 | 694;695;696 | chr2:178800509;178800508;178800507 | chr2:179665236;179665235;179665234 |
| N2A | 157 | 694;695;696 | chr2:178800509;178800508;178800507 | chr2:179665236;179665235;179665234 |
| N2B | 157 | 694;695;696 | chr2:178800509;178800508;178800507 | chr2:179665236;179665235;179665234 |
| Novex-1 | 157 | 694;695;696 | chr2:178800509;178800508;178800507 | chr2:179665236;179665235;179665234 |
| Novex-2 | 157 | 694;695;696 | chr2:178800509;178800508;178800507 | chr2:179665236;179665235;179665234 |
| Novex-3 | 157 | 694;695;696 | chr2:178800509;178800508;178800507 | chr2:179665236;179665235;179665234 |
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 | None | None | 0.059 | N | 0.583 | 0.308 | 0.253205268125 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.431(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/N | rs1471570172  |
-0.526 | 0.003 | N | 0.229 | 0.165 | 0.229924730088 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -1.322(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.79E-06 | 0 |
| D/N | rs1471570172 |
-0.526 | 0.003 | N | 0.229 | 0.165 | 0.229924730088 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -1.322(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| D/N | rs1471570172 |
-0.526 | 0.003 | N | 0.229 | 0.165 | 0.229924730088 | gnomAD-4.0.0 | 4.33674E-06 | None | None | None | -1.322(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23725E-06 | 2.19606E-05 | 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 | 0.4273 | ambiguous | 0.4286 | ambiguous | -0.541 | Destabilizing | 0.08 | N | 0.679 | prob.neutral | D | 0.564228949 | None | -0.285(TCAP) | N |
| D/C | 0.9359 | likely_pathogenic | 0.9463 | pathogenic | -0.211 | Destabilizing | 0.845 | D | 0.779 | deleterious | None | None | None | -0.76(TCAP) | N |
| D/E | 0.191 | likely_benign | 0.1853 | benign | -0.467 | Destabilizing | None | N | 0.253 | neutral | N | 0.519291441 | None | -0.635(TCAP) | N |
| D/F | 0.8836 | likely_pathogenic | 0.8858 | pathogenic | 0.12 | Stabilizing | 0.593 | D | 0.765 | deleterious | None | None | None | -0.495(TCAP) | N |
| D/G | 0.4191 | ambiguous | 0.4264 | ambiguous | -0.913 | Destabilizing | 0.059 | N | 0.583 | neutral | N | 0.474042809 | None | -0.431(TCAP) | N |
| D/H | 0.666 | likely_pathogenic | 0.6909 | pathogenic | -0.063 | Destabilizing | 0.676 | D | 0.688 | prob.neutral | D | 0.604695071 | None | 0.719(TCAP) | N |
| D/I | 0.721 | likely_pathogenic | 0.7424 | pathogenic | 0.451 | Stabilizing | 0.744 | D | 0.758 | deleterious | None | None | None | 0.103(TCAP) | N |
| D/K | 0.6848 | likely_pathogenic | 0.7108 | pathogenic | -0.208 | Destabilizing | 0.293 | N | 0.598 | neutral | None | None | None | -0.134(TCAP) | N |
| D/L | 0.6983 | likely_pathogenic | 0.7124 | pathogenic | 0.451 | Stabilizing | 0.744 | D | 0.706 | prob.neutral | None | None | None | 0.103(TCAP) | N |
| D/M | 0.8521 | likely_pathogenic | 0.866 | pathogenic | 0.81 | Stabilizing | 0.962 | D | 0.758 | deleterious | None | None | None | 0.753(TCAP) | N |
| D/N | 0.1867 | likely_benign | 0.1905 | benign | -0.808 | Destabilizing | 0.003 | N | 0.229 | neutral | N | 0.499535007 | None | -1.322(TCAP) | N |
| D/P | 0.8616 | likely_pathogenic | 0.8242 | pathogenic | 0.146 | Stabilizing | 0.104 | N | 0.693 | prob.neutral | None | None | None | -0.016(TCAP) | N |
| D/Q | 0.5612 | ambiguous | 0.5822 | pathogenic | -0.642 | Destabilizing | 0.352 | N | 0.635 | neutral | None | None | None | -0.943(TCAP) | N |
| D/R | 0.7475 | likely_pathogenic | 0.7576 | pathogenic | 0.039 | Stabilizing | 0.593 | D | 0.749 | deleterious | None | None | None | -0.006(TCAP) | N |
| D/S | 0.2578 | likely_benign | 0.2603 | benign | -1.061 | Destabilizing | 0.104 | N | 0.551 | neutral | None | None | None | -1.276(TCAP) | N |
| D/T | 0.4971 | ambiguous | 0.501 | ambiguous | -0.744 | Destabilizing | 0.265 | N | 0.62 | neutral | None | None | None | -1.137(TCAP) | N |
| D/V | 0.5437 | ambiguous | 0.5731 | pathogenic | 0.146 | Stabilizing | 0.277 | N | 0.736 | prob.delet. | D | 0.59844571 | None | -0.016(TCAP) | N |
| D/W | 0.9776 | likely_pathogenic | 0.9777 | pathogenic | 0.392 | Stabilizing | 0.957 | D | 0.775 | deleterious | None | None | None | -0.721(TCAP) | N |
| D/Y | 0.6125 | likely_pathogenic | 0.6355 | pathogenic | 0.398 | Stabilizing | 0.011 | N | 0.533 | neutral | D | 0.645590841 | None | -0.429(TCAP) | 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.