Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7238 | 21937;21938;21939 | chr2:178723295;178723294;178723293 | chr2:179588022;179588021;179588020 |
| N2AB | 6921 | 20986;20987;20988 | chr2:178723295;178723294;178723293 | chr2:179588022;179588021;179588020 |
| N2A | 5994 | 18205;18206;18207 | chr2:178723295;178723294;178723293 | chr2:179588022;179588021;179588020 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs2078746720  |
None | 0.248 | N | 0.218 | 0.171 | 0.130388298395 | gnomAD-4.0.0 | 1.3691E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79945E-06 | 0 | 0 |
| D/H | rs747881141 |
None | 0.998 | N | 0.529 | 0.346 | 0.201204373187 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/H | rs747881141 |
None | 0.998 | N | 0.529 | 0.346 | 0.201204373187 | gnomAD-4.0.0 | 6.57402E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47059E-05 | 0 | 0 |
| D/N | rs747881141 |
-0.171 | 0.433 | N | 0.226 | 0.189 | 0.107399877778 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 8.29E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.58E-05 | 0 |
| D/N | rs747881141 |
-0.171 | 0.433 | N | 0.226 | 0.189 | 0.107399877778 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs747881141 |
-0.171 | 0.433 | N | 0.226 | 0.189 | 0.107399877778 | gnomAD-4.0.0 | 6.20152E-06 | None | None | None | None | N | None | 4.01134E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93591E-06 | 0 | 0 |
| D/V | rs780646514 |
0.077 | 0.994 | N | 0.606 | 0.317 | 0.471778926243 | gnomAD-2.1.1 | 3.65E-05 | None | None | None | None | N | None | 0 | 2.62238E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/V | rs780646514 |
0.077 | 0.994 | N | 0.606 | 0.317 | 0.471778926243 | gnomAD-4.0.0 | 1.27536E-05 | None | None | None | None | N | None | 0 | 1.83411E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2937 | likely_benign | 0.3156 | benign | -0.076 | Destabilizing | 0.925 | D | 0.428 | neutral | N | 0.482776499 | None | None | N |
| D/C | 0.7873 | likely_pathogenic | 0.8028 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| D/E | 0.3148 | likely_benign | 0.3524 | ambiguous | -0.263 | Destabilizing | 0.248 | N | 0.218 | neutral | N | 0.471229156 | None | None | N |
| D/F | 0.7714 | likely_pathogenic | 0.8084 | pathogenic | -0.105 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| D/G | 0.2357 | likely_benign | 0.2671 | benign | -0.235 | Destabilizing | 0.961 | D | 0.389 | neutral | N | 0.475926417 | None | None | N |
| D/H | 0.3944 | ambiguous | 0.412 | ambiguous | 0.21 | Stabilizing | 0.998 | D | 0.529 | neutral | N | 0.490120333 | None | None | N |
| D/I | 0.6219 | likely_pathogenic | 0.6693 | pathogenic | 0.282 | Stabilizing | 0.996 | D | 0.645 | neutral | None | None | None | None | N |
| D/K | 0.5949 | likely_pathogenic | 0.62 | pathogenic | 0.516 | Stabilizing | 0.97 | D | 0.439 | neutral | None | None | None | None | N |
| D/L | 0.6186 | likely_pathogenic | 0.6598 | pathogenic | 0.282 | Stabilizing | 0.996 | D | 0.603 | neutral | None | None | None | None | N |
| D/M | 0.8307 | likely_pathogenic | 0.8629 | pathogenic | 0.274 | Stabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| D/N | 0.0928 | likely_benign | 0.0982 | benign | 0.225 | Stabilizing | 0.433 | N | 0.226 | neutral | N | 0.475930385 | None | None | N |
| D/P | 0.6043 | likely_pathogenic | 0.6137 | pathogenic | 0.184 | Stabilizing | 0.996 | D | 0.52 | neutral | None | None | None | None | N |
| D/Q | 0.5461 | ambiguous | 0.5782 | pathogenic | 0.245 | Stabilizing | 0.991 | D | 0.44 | neutral | None | None | None | None | N |
| D/R | 0.5955 | likely_pathogenic | 0.6213 | pathogenic | 0.66 | Stabilizing | 0.991 | D | 0.591 | neutral | None | None | None | None | N |
| D/S | 0.1447 | likely_benign | 0.1531 | benign | 0.148 | Stabilizing | 0.746 | D | 0.226 | neutral | None | None | None | None | N |
| D/T | 0.3764 | ambiguous | 0.4004 | ambiguous | 0.275 | Stabilizing | 0.942 | D | 0.44 | neutral | None | None | None | None | N |
| D/V | 0.456 | ambiguous | 0.4976 | ambiguous | 0.184 | Stabilizing | 0.994 | D | 0.606 | neutral | N | 0.476686886 | None | None | N |
| D/W | 0.9485 | likely_pathogenic | 0.956 | pathogenic | -0.023 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| D/Y | 0.3759 | ambiguous | 0.4056 | ambiguous | 0.131 | Stabilizing | 0.998 | D | 0.646 | neutral | N | 0.519745477 | 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.