Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32119 | 96580;96581;96582 | chr2:178543618;178543617;178543616 | chr2:179408345;179408344;179408343 |
| N2AB | 30478 | 91657;91658;91659 | chr2:178543618;178543617;178543616 | chr2:179408345;179408344;179408343 |
| N2A | 29551 | 88876;88877;88878 | chr2:178543618;178543617;178543616 | chr2:179408345;179408344;179408343 |
| N2B | 23054 | 69385;69386;69387 | chr2:178543618;178543617;178543616 | chr2:179408345;179408344;179408343 |
| Novex-1 | 23179 | 69760;69761;69762 | chr2:178543618;178543617;178543616 | chr2:179408345;179408344;179408343 |
| Novex-2 | 23246 | 69961;69962;69963 | chr2:178543618;178543617;178543616 | chr2:179408345;179408344;179408343 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs183151656  |
-0.739 | 0.005 | N | 0.075 | 0.086 | None | gnomAD-2.1.1 | 8.34E-06 | None | None | None | None | N | None | 0 | 5.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/K | rs183151656 |
-0.739 | 0.005 | N | 0.075 | 0.086 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/K | rs183151656 |
-0.739 | 0.005 | N | 0.075 | 0.086 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/K | rs183151656 |
-0.739 | 0.005 | N | 0.075 | 0.086 | None | gnomAD-4.0.0 | 1.24789E-06 | None | None | None | None | N | None | 0 | 3.337E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3913 | ambiguous | 0.3199 | benign | -0.134 | Destabilizing | 0.688 | D | 0.431 | neutral | None | None | None | None | N |
| R/C | 0.2361 | likely_benign | 0.2039 | benign | -0.191 | Destabilizing | 0.998 | D | 0.459 | neutral | None | None | None | None | N |
| R/D | 0.7744 | likely_pathogenic | 0.7136 | pathogenic | -0.159 | Destabilizing | 0.842 | D | 0.435 | neutral | None | None | None | None | N |
| R/E | 0.4515 | ambiguous | 0.3858 | ambiguous | -0.107 | Destabilizing | 0.728 | D | 0.347 | neutral | None | None | None | None | N |
| R/F | 0.713 | likely_pathogenic | 0.6567 | pathogenic | -0.391 | Destabilizing | 0.991 | D | 0.465 | neutral | None | None | None | None | N |
| R/G | 0.2687 | likely_benign | 0.2095 | benign | -0.321 | Destabilizing | 0.005 | N | 0.162 | neutral | N | 0.411543338 | None | None | N |
| R/H | 0.1402 | likely_benign | 0.1308 | benign | -0.775 | Destabilizing | 0.991 | D | 0.38 | neutral | None | None | None | None | N |
| R/I | 0.4356 | ambiguous | 0.3521 | ambiguous | 0.321 | Stabilizing | 0.966 | D | 0.479 | neutral | N | 0.521385821 | None | None | N |
| R/K | 0.0864 | likely_benign | 0.0746 | benign | -0.179 | Destabilizing | 0.005 | N | 0.075 | neutral | N | 0.373371739 | None | None | N |
| R/L | 0.334 | likely_benign | 0.2983 | benign | 0.321 | Stabilizing | 0.842 | D | 0.426 | neutral | None | None | None | None | N |
| R/M | 0.3792 | ambiguous | 0.3058 | benign | 0.034 | Stabilizing | 0.991 | D | 0.402 | neutral | None | None | None | None | N |
| R/N | 0.6352 | likely_pathogenic | 0.5503 | ambiguous | 0.147 | Stabilizing | 0.842 | D | 0.352 | neutral | None | None | None | None | N |
| R/P | 0.4751 | ambiguous | 0.4521 | ambiguous | 0.189 | Stabilizing | 0.974 | D | 0.435 | neutral | None | None | None | None | N |
| R/Q | 0.1204 | likely_benign | 0.1078 | benign | -0.024 | Destabilizing | 0.842 | D | 0.428 | neutral | None | None | None | None | N |
| R/S | 0.5273 | ambiguous | 0.4299 | ambiguous | -0.256 | Destabilizing | 0.801 | D | 0.405 | neutral | N | 0.430144954 | None | None | N |
| R/T | 0.3221 | likely_benign | 0.2568 | benign | -0.077 | Destabilizing | 0.801 | D | 0.419 | neutral | N | 0.485635665 | None | None | N |
| R/V | 0.4777 | ambiguous | 0.3944 | ambiguous | 0.189 | Stabilizing | 0.974 | D | 0.455 | neutral | None | None | None | None | N |
| R/W | 0.3205 | likely_benign | 0.2828 | benign | -0.404 | Destabilizing | 0.998 | D | 0.525 | neutral | None | None | None | None | N |
| R/Y | 0.5763 | likely_pathogenic | 0.5209 | ambiguous | -0.004 | Destabilizing | 0.991 | D | 0.438 | 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.