Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29538 | 88837;88838;88839 | chr2:178554735;178554734;178554733 | chr2:179419462;179419461;179419460 |
| N2AB | 27897 | 83914;83915;83916 | chr2:178554735;178554734;178554733 | chr2:179419462;179419461;179419460 |
| N2A | 26970 | 81133;81134;81135 | chr2:178554735;178554734;178554733 | chr2:179419462;179419461;179419460 |
| N2B | 20473 | 61642;61643;61644 | chr2:178554735;178554734;178554733 | chr2:179419462;179419461;179419460 |
| Novex-1 | 20598 | 62017;62018;62019 | chr2:178554735;178554734;178554733 | chr2:179419462;179419461;179419460 |
| Novex-2 | 20665 | 62218;62219;62220 | chr2:178554735;178554734;178554733 | chr2:179419462;179419461;179419460 |
| 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 | rs1206917206  |
-0.241 | 0.001 | N | 0.273 | 0.082 | 0.0846915920261 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/C | None | None | 0.928 | N | 0.705 | 0.194 | 0.425851741357 | gnomAD-4.0.0 | 1.59139E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.773E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 0.001 | N | 0.446 | 0.038 | 0.0482279557977 | gnomAD-4.0.0 | 3.18279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71615E-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 | 0.0658 | likely_benign | 0.0641 | benign | -0.752 | Destabilizing | 0.001 | N | 0.273 | neutral | N | 0.396005377 | None | None | N |
| G/C | 0.1093 | likely_benign | 0.1152 | benign | -0.744 | Destabilizing | 0.928 | D | 0.705 | prob.neutral | N | 0.483683077 | None | None | N |
| G/D | 0.1616 | likely_benign | 0.1686 | benign | -1.678 | Destabilizing | 0.001 | N | 0.484 | neutral | N | 0.441316379 | None | None | N |
| G/E | 0.1244 | likely_benign | 0.1246 | benign | -1.683 | Destabilizing | 0.241 | N | 0.659 | neutral | None | None | None | None | N |
| G/F | 0.3732 | ambiguous | 0.3755 | ambiguous | -0.938 | Destabilizing | 0.818 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/H | 0.2712 | likely_benign | 0.277 | benign | -1.724 | Destabilizing | 0.944 | D | 0.662 | neutral | None | None | None | None | N |
| G/I | 0.1403 | likely_benign | 0.1349 | benign | -0.2 | Destabilizing | 0.69 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/K | 0.2571 | likely_benign | 0.2669 | benign | -1.537 | Destabilizing | 0.241 | N | 0.689 | prob.neutral | None | None | None | None | N |
| G/L | 0.2092 | likely_benign | 0.2078 | benign | -0.2 | Destabilizing | 0.241 | N | 0.693 | prob.neutral | None | None | None | None | N |
| G/M | 0.2591 | likely_benign | 0.2586 | benign | -0.106 | Destabilizing | 0.981 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/N | 0.2367 | likely_benign | 0.2406 | benign | -1.186 | Destabilizing | 0.241 | N | 0.62 | neutral | None | None | None | None | N |
| G/P | 0.795 | likely_pathogenic | 0.8133 | pathogenic | -0.342 | Destabilizing | 0.818 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/Q | 0.1858 | likely_benign | 0.187 | benign | -1.284 | Destabilizing | 0.69 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/R | 0.1794 | likely_benign | 0.1849 | benign | -1.294 | Destabilizing | 0.627 | D | 0.694 | prob.neutral | N | 0.443585893 | None | None | N |
| G/S | 0.0758 | likely_benign | 0.0778 | benign | -1.37 | Destabilizing | 0.001 | N | 0.446 | neutral | N | 0.413764419 | None | None | N |
| G/T | 0.0948 | likely_benign | 0.0939 | benign | -1.305 | Destabilizing | 0.008 | N | 0.525 | neutral | None | None | None | None | N |
| G/V | 0.0947 | likely_benign | 0.0925 | benign | -0.342 | Destabilizing | 0.193 | N | 0.69 | prob.neutral | N | 0.436889207 | None | None | N |
| G/W | 0.3344 | likely_benign | 0.341 | ambiguous | -1.489 | Destabilizing | 0.981 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/Y | 0.286 | likely_benign | 0.2914 | benign | -1.034 | Destabilizing | 0.818 | D | 0.718 | prob.delet. | 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.