Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29702 | 89329;89330;89331 | chr2:178554007;178554006;178554005 | chr2:179418734;179418733;179418732 |
| N2AB | 28061 | 84406;84407;84408 | chr2:178554007;178554006;178554005 | chr2:179418734;179418733;179418732 |
| N2A | 27134 | 81625;81626;81627 | chr2:178554007;178554006;178554005 | chr2:179418734;179418733;179418732 |
| N2B | 20637 | 62134;62135;62136 | chr2:178554007;178554006;178554005 | chr2:179418734;179418733;179418732 |
| Novex-1 | 20762 | 62509;62510;62511 | chr2:178554007;178554006;178554005 | chr2:179418734;179418733;179418732 |
| Novex-2 | 20829 | 62710;62711;62712 | chr2:178554007;178554006;178554005 | chr2:179418734;179418733;179418732 |
| 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 | rs1700336824  |
None | None | N | 0.085 | 0.122 | 0.119812018005 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs1700336824 |
None | None | N | 0.085 | 0.122 | 0.119812018005 | gnomAD-4.0.0 | 2.0298E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20491E-06 | 0 | 3.40252E-05 |
| S/N | None | None | None | N | 0.076 | 0.141 | 0.0611884634855 | gnomAD-4.0.0 | 3.42182E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49728E-06 | 0 | 0 |
| S/T | rs1304120500 |
-0.962 | 0.062 | N | 0.393 | 0.068 | 0.0482279557977 | gnomAD-4.0.0 | 2.73745E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.65718E-05 | 0 | 0 | 0 | 1.65651E-05 |
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 | 0.0835 | likely_benign | 0.0833 | benign | -0.774 | Destabilizing | 0.035 | N | 0.363 | neutral | None | None | None | None | N |
| S/C | 0.0653 | likely_benign | 0.0682 | benign | -0.683 | Destabilizing | 0.915 | D | 0.449 | neutral | N | 0.453816822 | None | None | N |
| S/D | 0.5666 | likely_pathogenic | 0.5299 | ambiguous | -1.361 | Destabilizing | 0.081 | N | 0.373 | neutral | None | None | None | None | N |
| S/E | 0.6654 | likely_pathogenic | 0.6431 | pathogenic | -1.28 | Destabilizing | 0.081 | N | 0.405 | neutral | None | None | None | None | N |
| S/F | 0.2857 | likely_benign | 0.2629 | benign | -0.773 | Destabilizing | 0.791 | D | 0.485 | neutral | None | None | None | None | N |
| S/G | 0.0843 | likely_benign | 0.078 | benign | -1.09 | Destabilizing | None | N | 0.085 | neutral | N | 0.474114736 | None | None | N |
| S/H | 0.2888 | likely_benign | 0.2867 | benign | -1.555 | Destabilizing | 0.38 | N | 0.483 | neutral | None | None | None | None | N |
| S/I | 0.1994 | likely_benign | 0.1878 | benign | -0.015 | Destabilizing | 0.484 | N | 0.492 | neutral | N | 0.46145487 | None | None | N |
| S/K | 0.6984 | likely_pathogenic | 0.6888 | pathogenic | -0.791 | Destabilizing | 0.081 | N | 0.415 | neutral | None | None | None | None | N |
| S/L | 0.1386 | likely_benign | 0.1259 | benign | -0.015 | Destabilizing | 0.149 | N | 0.456 | neutral | None | None | None | None | N |
| S/M | 0.1747 | likely_benign | 0.1789 | benign | 0.198 | Stabilizing | 0.935 | D | 0.461 | neutral | None | None | None | None | N |
| S/N | 0.1059 | likely_benign | 0.1122 | benign | -1.143 | Destabilizing | None | N | 0.076 | neutral | N | 0.434806986 | None | None | N |
| S/P | 0.9677 | likely_pathogenic | 0.9535 | pathogenic | -0.233 | Destabilizing | 0.555 | D | 0.499 | neutral | None | None | None | None | N |
| S/Q | 0.4685 | ambiguous | 0.4722 | ambiguous | -1.171 | Destabilizing | 0.38 | N | 0.502 | neutral | None | None | None | None | N |
| S/R | 0.5927 | likely_pathogenic | 0.5657 | pathogenic | -0.805 | Destabilizing | 0.317 | N | 0.485 | neutral | N | 0.476440178 | None | None | N |
| S/T | 0.0855 | likely_benign | 0.0848 | benign | -0.925 | Destabilizing | 0.062 | N | 0.393 | neutral | N | 0.422677477 | None | None | N |
| S/V | 0.178 | likely_benign | 0.1739 | benign | -0.233 | Destabilizing | 0.555 | D | 0.482 | neutral | None | None | None | None | N |
| S/W | 0.4603 | ambiguous | 0.4137 | ambiguous | -0.907 | Destabilizing | 0.935 | D | 0.569 | neutral | None | None | None | None | N |
| S/Y | 0.2137 | likely_benign | 0.1942 | benign | -0.558 | Destabilizing | 0.791 | D | 0.487 | 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.