Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25427 | 76504;76505;76506 | chr2:178569853;178569852;178569851 | chr2:179434580;179434579;179434578 |
| N2AB | 23786 | 71581;71582;71583 | chr2:178569853;178569852;178569851 | chr2:179434580;179434579;179434578 |
| N2A | 22859 | 68800;68801;68802 | chr2:178569853;178569852;178569851 | chr2:179434580;179434579;179434578 |
| N2B | 16362 | 49309;49310;49311 | chr2:178569853;178569852;178569851 | chr2:179434580;179434579;179434578 |
| Novex-1 | 16487 | 49684;49685;49686 | chr2:178569853;178569852;178569851 | chr2:179434580;179434579;179434578 |
| Novex-2 | 16554 | 49885;49886;49887 | chr2:178569853;178569852;178569851 | chr2:179434580;179434579;179434578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1412222189  |
None | None | N | 0.173 | 0.11 | 0.173771789658 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs1412222189 |
None | None | N | 0.173 | 0.11 | 0.173771789658 | gnomAD-4.0.0 | 6.57635E-06 | None | None | None | None | N | None | 2.41359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1171926149 |
None | 0.117 | N | 0.402 | 0.097 | 0.176091768786 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| S/N | rs1171926149 |
None | 0.117 | N | 0.402 | 0.097 | 0.176091768786 | gnomAD-4.0.0 | 1.31551E-05 | None | None | None | None | N | None | 2.41418E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1152 | likely_benign | 0.1112 | benign | -0.621 | Destabilizing | 0.016 | N | 0.277 | neutral | None | None | None | None | N |
| S/C | 0.0946 | likely_benign | 0.0969 | benign | -0.454 | Destabilizing | 0.78 | D | 0.494 | neutral | N | 0.485882323 | None | None | N |
| S/D | 0.4163 | ambiguous | 0.4102 | ambiguous | -1.07 | Destabilizing | 0.149 | N | 0.385 | neutral | None | None | None | None | N |
| S/E | 0.5281 | ambiguous | 0.5234 | ambiguous | -0.973 | Destabilizing | 0.149 | N | 0.397 | neutral | None | None | None | None | N |
| S/F | 0.4129 | ambiguous | 0.3996 | ambiguous | -0.584 | Destabilizing | 0.555 | D | 0.602 | neutral | None | None | None | None | N |
| S/G | 0.049 | likely_benign | 0.0516 | benign | -0.974 | Destabilizing | None | N | 0.173 | neutral | N | 0.499301182 | None | None | N |
| S/H | 0.3761 | ambiguous | 0.3638 | ambiguous | -1.581 | Destabilizing | 0.935 | D | 0.501 | neutral | None | None | None | None | N |
| S/I | 0.2037 | likely_benign | 0.2043 | benign | 0.238 | Stabilizing | 0.188 | N | 0.611 | neutral | N | 0.488084369 | None | None | N |
| S/K | 0.6312 | likely_pathogenic | 0.652 | pathogenic | -0.76 | Destabilizing | 0.149 | N | 0.42 | neutral | None | None | None | None | N |
| S/L | 0.1831 | likely_benign | 0.1715 | benign | 0.238 | Stabilizing | 0.081 | N | 0.564 | neutral | None | None | None | None | N |
| S/M | 0.2246 | likely_benign | 0.2059 | benign | 0.407 | Stabilizing | 0.824 | D | 0.494 | neutral | None | None | None | None | N |
| S/N | 0.1005 | likely_benign | 0.1039 | benign | -1.104 | Destabilizing | 0.117 | N | 0.402 | neutral | N | 0.476442965 | None | None | N |
| S/P | 0.8209 | likely_pathogenic | 0.7806 | pathogenic | -0.011 | Destabilizing | 0.555 | D | 0.545 | neutral | None | None | None | None | N |
| S/Q | 0.4432 | ambiguous | 0.4435 | ambiguous | -1.006 | Destabilizing | 0.555 | D | 0.469 | neutral | None | None | None | None | N |
| S/R | 0.5831 | likely_pathogenic | 0.5905 | pathogenic | -0.931 | Destabilizing | 0.317 | N | 0.541 | neutral | D | 0.522850045 | None | None | N |
| S/T | 0.0963 | likely_benign | 0.0885 | benign | -0.842 | Destabilizing | None | N | 0.204 | neutral | N | 0.485926453 | None | None | N |
| S/V | 0.2081 | likely_benign | 0.2157 | benign | -0.011 | Destabilizing | 0.081 | N | 0.558 | neutral | None | None | None | None | N |
| S/W | 0.5311 | ambiguous | 0.5205 | ambiguous | -0.788 | Destabilizing | 0.935 | D | 0.631 | neutral | None | None | None | None | N |
| S/Y | 0.3257 | likely_benign | 0.319 | benign | -0.421 | Destabilizing | 0.555 | D | 0.589 | 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.