Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2576 | 7951;7952;7953 | chr2:178773238;178773237;178773236 | chr2:179637965;179637964;179637963 |
| N2AB | 2576 | 7951;7952;7953 | chr2:178773238;178773237;178773236 | chr2:179637965;179637964;179637963 |
| N2A | 2576 | 7951;7952;7953 | chr2:178773238;178773237;178773236 | chr2:179637965;179637964;179637963 |
| N2B | 2530 | 7813;7814;7815 | chr2:178773238;178773237;178773236 | chr2:179637965;179637964;179637963 |
| Novex-1 | 2530 | 7813;7814;7815 | chr2:178773238;178773237;178773236 | chr2:179637965;179637964;179637963 |
| Novex-2 | 2530 | 7813;7814;7815 | chr2:178773238;178773237;178773236 | chr2:179637965;179637964;179637963 |
| Novex-3 | 2576 | 7951;7952;7953 | chr2:178773238;178773237;178773236 | chr2:179637965;179637964;179637963 |
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/P | rs1192243429  |
None | None | N | 0.131 | 0.072 | 0.0297737177859 | 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 |
| S/P | rs1192243429 |
None | None | N | 0.131 | 0.072 | 0.0297737177859 | gnomAD-4.0.0 | 6.57376E-06 | None | None | None | None | N | None | 0 | 6.55136E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/Y | rs1420811529 |
None | 0.822 | N | 0.305 | 0.064 | 0.344251166708 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0633 | likely_benign | 0.0673 | benign | -0.145 | Destabilizing | 0.001 | N | 0.103 | neutral | N | 0.41021499299999997 | None | None | N |
| S/C | 0.177 | likely_benign | 0.1707 | benign | -0.456 | Destabilizing | 0.946 | D | 0.258 | neutral | N | 0.458454282 | None | None | N |
| S/D | 0.2098 | likely_benign | 0.1722 | benign | 0.082 | Stabilizing | None | N | 0.158 | neutral | None | None | None | None | N |
| S/E | 0.2269 | likely_benign | 0.192 | benign | -0.019 | Destabilizing | None | N | 0.166 | neutral | None | None | None | None | N |
| S/F | 0.228 | likely_benign | 0.2415 | benign | -0.923 | Destabilizing | 0.822 | D | 0.305 | neutral | N | 0.456030265 | None | None | N |
| S/G | 0.0865 | likely_benign | 0.09 | benign | -0.179 | Destabilizing | None | N | 0.103 | neutral | None | None | None | None | N |
| S/H | 0.2463 | likely_benign | 0.2314 | benign | -0.453 | Destabilizing | 0.667 | D | 0.252 | neutral | None | None | None | None | N |
| S/I | 0.1573 | likely_benign | 0.1602 | benign | -0.186 | Destabilizing | 0.364 | N | 0.342 | neutral | None | None | None | None | N |
| S/K | 0.3876 | ambiguous | 0.3431 | ambiguous | -0.352 | Destabilizing | 0.055 | N | 0.226 | neutral | None | None | None | None | N |
| S/L | 0.0971 | likely_benign | 0.1017 | benign | -0.186 | Destabilizing | 0.104 | N | 0.296 | neutral | None | None | None | None | N |
| S/M | 0.1891 | likely_benign | 0.2064 | benign | -0.255 | Destabilizing | 0.859 | D | 0.263 | neutral | None | None | None | None | N |
| S/N | 0.105 | likely_benign | 0.1001 | benign | -0.19 | Destabilizing | 0.104 | N | 0.217 | neutral | None | None | None | None | N |
| S/P | 0.0701 | likely_benign | 0.069 | benign | -0.149 | Destabilizing | None | N | 0.131 | neutral | N | 0.358940696 | None | None | N |
| S/Q | 0.2503 | likely_benign | 0.2413 | benign | -0.365 | Destabilizing | 0.124 | N | 0.199 | neutral | None | None | None | None | N |
| S/R | 0.3531 | ambiguous | 0.3247 | benign | -0.122 | Destabilizing | 0.22 | N | 0.317 | neutral | None | None | None | None | N |
| S/T | 0.0859 | likely_benign | 0.0892 | benign | -0.287 | Destabilizing | 0.081 | N | 0.243 | neutral | N | 0.453494557 | None | None | N |
| S/V | 0.1471 | likely_benign | 0.1523 | benign | -0.149 | Destabilizing | 0.104 | N | 0.297 | neutral | None | None | None | None | N |
| S/W | 0.3461 | ambiguous | 0.3575 | ambiguous | -1.036 | Destabilizing | 0.958 | D | 0.293 | neutral | None | None | None | None | N |
| S/Y | 0.2044 | likely_benign | 0.2057 | benign | -0.702 | Destabilizing | 0.822 | D | 0.305 | neutral | N | 0.456497585 | 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.