Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35355 | 106288;106289;106290 | chr2:178530552;178530551;178530550 | chr2:179395279;179395278;179395277 |
| N2AB | 33714 | 101365;101366;101367 | chr2:178530552;178530551;178530550 | chr2:179395279;179395278;179395277 |
| N2A | 32787 | 98584;98585;98586 | chr2:178530552;178530551;178530550 | chr2:179395279;179395278;179395277 |
| N2B | 26290 | 79093;79094;79095 | chr2:178530552;178530551;178530550 | chr2:179395279;179395278;179395277 |
| Novex-1 | 26415 | 79468;79469;79470 | chr2:178530552;178530551;178530550 | chr2:179395279;179395278;179395277 |
| Novex-2 | 26482 | 79669;79670;79671 | chr2:178530552;178530551;178530550 | chr2:179395279;179395278;179395277 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.974 | D | 0.666 | 0.73 | 0.486993258117 | gnomAD-4.0.0 | 1.59092E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| G/E | rs976373370  |
None | 1.0 | D | 0.841 | 0.847 | 0.683898463325 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/E | rs976373370 |
None | 1.0 | D | 0.841 | 0.847 | 0.683898463325 | 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 |
| G/E | rs976373370 |
None | 1.0 | D | 0.841 | 0.847 | 0.683898463325 | gnomAD-4.0.0 | 5.12344E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.56965E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5158 | ambiguous | 0.4802 | ambiguous | -0.777 | Destabilizing | 0.974 | D | 0.666 | neutral | D | 0.572467577 | None | None | N |
| G/C | 0.8864 | likely_pathogenic | 0.8794 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/D | 0.9272 | likely_pathogenic | 0.921 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/E | 0.9335 | likely_pathogenic | 0.9258 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.641127593 | None | None | N |
| G/F | 0.9875 | likely_pathogenic | 0.9853 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/H | 0.9865 | likely_pathogenic | 0.9833 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/I | 0.9724 | likely_pathogenic | 0.9636 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/K | 0.9782 | likely_pathogenic | 0.9729 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/L | 0.9719 | likely_pathogenic | 0.9663 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/M | 0.9807 | likely_pathogenic | 0.9771 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/N | 0.9623 | likely_pathogenic | 0.9566 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/P | 0.9974 | likely_pathogenic | 0.9967 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/Q | 0.964 | likely_pathogenic | 0.9592 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/R | 0.9529 | likely_pathogenic | 0.9434 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.64193481 | None | None | N |
| G/S | 0.5683 | likely_pathogenic | 0.5512 | ambiguous | -1.438 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/T | 0.8911 | likely_pathogenic | 0.874 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/V | 0.9272 | likely_pathogenic | 0.9092 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.625915449 | None | None | N |
| G/W | 0.9751 | likely_pathogenic | 0.9719 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/Y | 0.983 | likely_pathogenic | 0.9799 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.825 | deleterious | 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.