Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5211 | 15856;15857;15858 | chr2:178733758;178733757;178733756 | chr2:179598485;179598484;179598483 |
| N2AB | 4894 | 14905;14906;14907 | chr2:178733758;178733757;178733756 | chr2:179598485;179598484;179598483 |
| N2A | 3967 | 12124;12125;12126 | chr2:178733758;178733757;178733756 | chr2:179598485;179598484;179598483 |
| 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/A | rs1174909402  |
-0.423 | 0.865 | N | 0.485 | 0.142 | 0.301455362545 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/A | rs1174909402 |
-0.423 | 0.865 | N | 0.485 | 0.142 | 0.301455362545 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| D/E | rs534365478 |
-0.257 | 0.985 | N | 0.397 | 0.193 | 0.163833314356 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/E | rs534365478 |
-0.257 | 0.985 | N | 0.397 | 0.193 | 0.163833314356 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/E | rs534365478 |
-0.257 | 0.985 | N | 0.397 | 0.193 | 0.163833314356 | gnomAD-4.0.0 | 6.57557E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47029E-05 | 0 | 0 |
| D/H | None | None | 0.999 | N | 0.615 | 0.335 | 0.220303561663 | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99468E-07 | 2.31868E-05 | 0 |
| D/N | None | None | 0.978 | N | 0.533 | 0.22 | 0.194818534648 | gnomAD-4.0.0 | 6.84191E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99468E-07 | 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 | 0.1658 | likely_benign | 0.1921 | benign | 0.009 | Stabilizing | 0.865 | D | 0.485 | neutral | N | 0.456104627 | None | None | N |
| D/C | 0.5686 | likely_pathogenic | 0.6605 | pathogenic | -0.01 | Destabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | N |
| D/E | 0.1923 | likely_benign | 0.2041 | benign | -0.225 | Destabilizing | 0.985 | D | 0.397 | neutral | N | 0.439329221 | None | None | N |
| D/F | 0.5511 | ambiguous | 0.62 | pathogenic | -0.041 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/G | 0.1258 | likely_benign | 0.1509 | benign | -0.128 | Destabilizing | 0.017 | N | 0.317 | neutral | N | 0.429665113 | None | None | N |
| D/H | 0.289 | likely_benign | 0.3295 | benign | 0.429 | Stabilizing | 0.999 | D | 0.615 | neutral | N | 0.491030388 | None | None | N |
| D/I | 0.3865 | ambiguous | 0.4404 | ambiguous | 0.306 | Stabilizing | 0.997 | D | 0.743 | deleterious | None | None | None | None | N |
| D/K | 0.4071 | ambiguous | 0.4496 | ambiguous | 0.498 | Stabilizing | 0.983 | D | 0.602 | neutral | None | None | None | None | N |
| D/L | 0.4 | ambiguous | 0.4625 | ambiguous | 0.306 | Stabilizing | 0.992 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/M | 0.5727 | likely_pathogenic | 0.6422 | pathogenic | 0.182 | Stabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/N | 0.0813 | likely_benign | 0.0901 | benign | 0.248 | Stabilizing | 0.978 | D | 0.533 | neutral | N | 0.452226347 | None | None | N |
| D/P | 0.7221 | likely_pathogenic | 0.7842 | pathogenic | 0.228 | Stabilizing | 0.997 | D | 0.589 | neutral | None | None | None | None | N |
| D/Q | 0.3769 | ambiguous | 0.4276 | ambiguous | 0.259 | Stabilizing | 0.997 | D | 0.591 | neutral | None | None | None | None | N |
| D/R | 0.4306 | ambiguous | 0.4659 | ambiguous | 0.695 | Stabilizing | 0.992 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/S | 0.1177 | likely_benign | 0.1296 | benign | 0.151 | Stabilizing | 0.944 | D | 0.432 | neutral | None | None | None | None | N |
| D/T | 0.1895 | likely_benign | 0.2219 | benign | 0.262 | Stabilizing | 0.992 | D | 0.601 | neutral | None | None | None | None | N |
| D/V | 0.2271 | likely_benign | 0.2534 | benign | 0.228 | Stabilizing | 0.989 | D | 0.715 | prob.delet. | N | 0.521491083 | None | None | N |
| D/W | 0.8378 | likely_pathogenic | 0.8626 | pathogenic | 0.017 | Stabilizing | 0.999 | D | 0.75 | deleterious | None | None | None | None | N |
| D/Y | 0.2286 | likely_benign | 0.2478 | benign | 0.191 | Stabilizing | 0.999 | D | 0.728 | prob.delet. | N | 0.521491083 | 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.