Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8814 | 26665;26666;26667 | chr2:178714334;178714333;178714332 | chr2:179579061;179579060;179579059 |
| N2AB | 8497 | 25714;25715;25716 | chr2:178714334;178714333;178714332 | chr2:179579061;179579060;179579059 |
| N2A | 7570 | 22933;22934;22935 | chr2:178714334;178714333;178714332 | chr2:179579061;179579060;179579059 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/N | rs1035364658  |
0.593 | 0.999 | N | 0.587 | 0.324 | 0.476676017676 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1035364658 |
0.593 | 0.999 | N | 0.587 | 0.324 | 0.476676017676 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | I | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1035364658 |
None | 1.0 | N | 0.734 | 0.378 | 0.633624541524 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1035364658 |
None | 1.0 | N | 0.734 | 0.378 | 0.633624541524 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 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 | 0.1396 | likely_benign | 0.1857 | benign | 0.058 | Stabilizing | 0.992 | D | 0.543 | neutral | N | 0.485822958 | None | None | I |
| D/C | 0.6643 | likely_pathogenic | 0.787 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| D/E | 0.1283 | likely_benign | 0.1463 | benign | -0.314 | Destabilizing | 0.996 | D | 0.358 | neutral | N | 0.465695615 | None | None | I |
| D/F | 0.527 | ambiguous | 0.6752 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| D/G | 0.1711 | likely_benign | 0.2269 | benign | -0.042 | Destabilizing | 0.996 | D | 0.565 | neutral | D | 0.534462267 | None | None | I |
| D/H | 0.2503 | likely_benign | 0.3547 | ambiguous | 0.339 | Stabilizing | 1.0 | D | 0.67 | neutral | N | 0.499784567 | None | None | I |
| D/I | 0.2775 | likely_benign | 0.3866 | ambiguous | 0.248 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| D/K | 0.2953 | likely_benign | 0.4129 | ambiguous | 0.538 | Stabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | I |
| D/L | 0.3421 | ambiguous | 0.4521 | ambiguous | 0.248 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| D/M | 0.5207 | ambiguous | 0.6555 | pathogenic | 0.165 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| D/N | 0.0992 | likely_benign | 0.1209 | benign | 0.395 | Stabilizing | 0.999 | D | 0.587 | neutral | N | 0.499024098 | None | None | I |
| D/P | 0.637 | likely_pathogenic | 0.7281 | pathogenic | 0.203 | Stabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| D/Q | 0.2895 | likely_benign | 0.3966 | ambiguous | 0.374 | Stabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| D/R | 0.3261 | likely_benign | 0.4663 | ambiguous | 0.66 | Stabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| D/S | 0.112 | likely_benign | 0.1402 | benign | 0.303 | Stabilizing | 0.967 | D | 0.441 | neutral | None | None | None | None | I |
| D/T | 0.2061 | likely_benign | 0.273 | benign | 0.381 | Stabilizing | 0.998 | D | 0.623 | neutral | None | None | None | None | I |
| D/V | 0.1674 | likely_benign | 0.2292 | benign | 0.203 | Stabilizing | 0.999 | D | 0.714 | prob.delet. | N | 0.485301163 | None | None | I |
| D/W | 0.8592 | likely_pathogenic | 0.9279 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| D/Y | 0.2226 | likely_benign | 0.3056 | benign | 0.078 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.503658907 | None | None | I |
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.