Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18235 | 54928;54929;54930 | chr2:178603984;178603983;178603982 | chr2:179468711;179468710;179468709 |
| N2AB | 16594 | 50005;50006;50007 | chr2:178603984;178603983;178603982 | chr2:179468711;179468710;179468709 |
| N2A | 15667 | 47224;47225;47226 | chr2:178603984;178603983;178603982 | chr2:179468711;179468710;179468709 |
| N2B | 9170 | 27733;27734;27735 | chr2:178603984;178603983;178603982 | chr2:179468711;179468710;179468709 |
| Novex-1 | 9295 | 28108;28109;28110 | chr2:178603984;178603983;178603982 | chr2:179468711;179468710;179468709 |
| Novex-2 | 9362 | 28309;28310;28311 | chr2:178603984;178603983;178603982 | chr2:179468711;179468710;179468709 |
| 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/C | rs758019427  |
-0.19 | 1.0 | N | 0.659 | 0.351 | 0.568285537894 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.9E-06 | 0 |
| R/C | rs758019427 |
-0.19 | 1.0 | N | 0.659 | 0.351 | 0.568285537894 | gnomAD-4.0.0 | 2.73845E-06 | None | None | None | None | N | None | 2.99383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99941E-07 | 1.16015E-05 | 1.65799E-05 |
| R/G | rs758019427 |
0.035 | 0.996 | N | 0.505 | 0.333 | 0.393471546983 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/G | rs758019427 |
0.035 | 0.996 | N | 0.505 | 0.333 | 0.393471546983 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/G | rs758019427 |
0.035 | 0.996 | N | 0.505 | 0.333 | 0.393471546983 | gnomAD-4.0.0 | 3.10069E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24046E-06 | 0 | 0 |
| R/H | rs750125113 |
-0.509 | 0.67 | N | 0.417 | 0.269 | 0.253205268125 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| R/H | rs750125113 |
-0.509 | 0.67 | N | 0.417 | 0.269 | 0.253205268125 | gnomAD-4.0.0 | 8.89995E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.51355E-04 | None | 0 | 0 | 3.59978E-06 | 3.48044E-05 | 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 | 0.6462 | likely_pathogenic | 0.4241 | ambiguous | 0.097 | Stabilizing | 0.985 | D | 0.494 | neutral | None | None | None | None | N |
| R/C | 0.377 | ambiguous | 0.2444 | benign | -0.174 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.474989636 | None | None | N |
| R/D | 0.8341 | likely_pathogenic | 0.6477 | pathogenic | -0.229 | Destabilizing | 0.998 | D | 0.514 | neutral | None | None | None | None | N |
| R/E | 0.7204 | likely_pathogenic | 0.5081 | ambiguous | -0.173 | Destabilizing | 0.985 | D | 0.491 | neutral | None | None | None | None | N |
| R/F | 0.7675 | likely_pathogenic | 0.5688 | pathogenic | -0.177 | Destabilizing | 0.998 | D | 0.638 | neutral | None | None | None | None | N |
| R/G | 0.4203 | ambiguous | 0.223 | benign | -0.07 | Destabilizing | 0.996 | D | 0.505 | neutral | N | 0.385081881 | None | None | N |
| R/H | 0.1969 | likely_benign | 0.1082 | benign | -0.591 | Destabilizing | 0.67 | D | 0.417 | neutral | N | 0.441500885 | None | None | N |
| R/I | 0.6674 | likely_pathogenic | 0.4606 | ambiguous | 0.494 | Stabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| R/K | 0.2088 | likely_benign | 0.1432 | benign | -0.064 | Destabilizing | 0.469 | N | 0.239 | neutral | None | None | None | None | N |
| R/L | 0.4967 | ambiguous | 0.2944 | benign | 0.494 | Stabilizing | 0.996 | D | 0.507 | neutral | N | 0.521039104 | None | None | N |
| R/M | 0.5918 | likely_pathogenic | 0.4079 | ambiguous | -0.003 | Destabilizing | 1.0 | D | 0.553 | neutral | None | None | None | None | N |
| R/N | 0.7273 | likely_pathogenic | 0.5162 | ambiguous | 0.041 | Stabilizing | 0.985 | D | 0.513 | neutral | None | None | None | None | N |
| R/P | 0.8193 | likely_pathogenic | 0.6189 | pathogenic | 0.381 | Stabilizing | 1.0 | D | 0.589 | neutral | N | 0.502453344 | None | None | N |
| R/Q | 0.2402 | likely_benign | 0.1354 | benign | None | Stabilizing | 0.996 | D | 0.507 | neutral | None | None | None | None | N |
| R/S | 0.7204 | likely_pathogenic | 0.4946 | ambiguous | -0.172 | Destabilizing | 0.992 | D | 0.51 | neutral | N | 0.452851243 | None | None | N |
| R/T | 0.6046 | likely_pathogenic | 0.3788 | ambiguous | 0.003 | Stabilizing | 0.993 | D | 0.498 | neutral | None | None | None | None | N |
| R/V | 0.6854 | likely_pathogenic | 0.4837 | ambiguous | 0.381 | Stabilizing | 0.998 | D | 0.608 | neutral | None | None | None | None | N |
| R/W | 0.4109 | ambiguous | 0.2406 | benign | -0.33 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| R/Y | 0.5712 | likely_pathogenic | 0.3756 | ambiguous | 0.088 | Stabilizing | 0.996 | D | 0.591 | 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.