Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3225 | 9898;9899;9900 | chr2:178766411;178766410;178766409 | chr2:179631138;179631137;179631136 |
| N2AB | 3225 | 9898;9899;9900 | chr2:178766411;178766410;178766409 | chr2:179631138;179631137;179631136 |
| N2A | 3225 | 9898;9899;9900 | chr2:178766411;178766410;178766409 | chr2:179631138;179631137;179631136 |
| N2B | 3179 | 9760;9761;9762 | chr2:178766411;178766410;178766409 | chr2:179631138;179631137;179631136 |
| Novex-1 | 3179 | 9760;9761;9762 | chr2:178766411;178766410;178766409 | chr2:179631138;179631137;179631136 |
| Novex-2 | 3179 | 9760;9761;9762 | chr2:178766411;178766410;178766409 | chr2:179631138;179631137;179631136 |
| Novex-3 | 3225 | 9898;9899;9900 | chr2:178766411;178766410;178766409 | chr2:179631138;179631137;179631136 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs1244268787  |
0.334 | 0.996 | N | 0.446 | 0.167 | 0.141422826196 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.93E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs1244268787 |
0.334 | 0.996 | N | 0.446 | 0.167 | 0.141422826196 | gnomAD-4.0.0 | 6.84191E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9947E-07 | 0 | 0 |
| N/S | rs202011992 |
-0.161 | 0.905 | N | 0.241 | 0.199 | None | gnomAD-2.1.1 | 4.25E-05 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.53E-05 | 0 |
| N/S | rs202011992 |
-0.161 | 0.905 | N | 0.241 | 0.199 | None | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.17606E-04 | 0 | 0 |
| N/S | rs202011992 |
-0.161 | 0.905 | N | 0.241 | 0.199 | None | gnomAD-4.0.0 | 9.91407E-05 | None | None | None | None | N | None | 2.66951E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.26284E-04 | 0 | 1.44055E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.8781 | likely_pathogenic | 0.826 | pathogenic | -0.558 | Destabilizing | 0.994 | D | 0.469 | neutral | None | None | None | None | N |
| N/C | 0.8621 | likely_pathogenic | 0.7967 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| N/D | 0.8064 | likely_pathogenic | 0.7849 | pathogenic | 0.213 | Stabilizing | 0.996 | D | 0.411 | neutral | N | 0.324604789 | None | None | N |
| N/E | 0.9251 | likely_pathogenic | 0.9074 | pathogenic | 0.227 | Stabilizing | 0.997 | D | 0.443 | neutral | None | None | None | None | N |
| N/F | 0.9241 | likely_pathogenic | 0.8976 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| N/G | 0.8548 | likely_pathogenic | 0.8005 | pathogenic | -0.804 | Destabilizing | 0.997 | D | 0.391 | neutral | None | None | None | None | N |
| N/H | 0.4679 | ambiguous | 0.4043 | ambiguous | -0.661 | Destabilizing | 1.0 | D | 0.573 | neutral | N | 0.38522107 | None | None | N |
| N/I | 0.876 | likely_pathogenic | 0.8308 | pathogenic | 0.023 | Stabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.319103804 | None | None | N |
| N/K | 0.9155 | likely_pathogenic | 0.8968 | pathogenic | -0.024 | Destabilizing | 0.996 | D | 0.446 | neutral | N | 0.383907543 | None | None | N |
| N/L | 0.8253 | likely_pathogenic | 0.762 | pathogenic | 0.023 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| N/M | 0.8772 | likely_pathogenic | 0.8371 | pathogenic | 0.316 | Stabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| N/P | 0.9867 | likely_pathogenic | 0.98 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| N/Q | 0.8631 | likely_pathogenic | 0.819 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.557 | neutral | None | None | None | None | N |
| N/R | 0.9017 | likely_pathogenic | 0.8745 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| N/S | 0.3885 | ambiguous | 0.3395 | benign | -0.427 | Destabilizing | 0.905 | D | 0.241 | neutral | N | 0.332811266 | None | None | N |
| N/T | 0.751 | likely_pathogenic | 0.6847 | pathogenic | -0.241 | Destabilizing | 0.992 | D | 0.427 | neutral | N | 0.311348766 | None | None | N |
| N/V | 0.8799 | likely_pathogenic | 0.8224 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| N/W | 0.9745 | likely_pathogenic | 0.9627 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| N/Y | 0.5756 | likely_pathogenic | 0.4883 | ambiguous | -0.25 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.332328703 | 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.