Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22603 | 68032;68033;68034 | chr2:178579223;178579222;178579221 | chr2:179443950;179443949;179443948 |
| N2AB | 20962 | 63109;63110;63111 | chr2:178579223;178579222;178579221 | chr2:179443950;179443949;179443948 |
| N2A | 20035 | 60328;60329;60330 | chr2:178579223;178579222;178579221 | chr2:179443950;179443949;179443948 |
| N2B | 13538 | 40837;40838;40839 | chr2:178579223;178579222;178579221 | chr2:179443950;179443949;179443948 |
| Novex-1 | 13663 | 41212;41213;41214 | chr2:178579223;178579222;178579221 | chr2:179443950;179443949;179443948 |
| Novex-2 | 13730 | 41413;41414;41415 | chr2:178579223;178579222;178579221 | chr2:179443950;179443949;179443948 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs199583938  |
-0.053 | 0.958 | N | 0.291 | 0.163 | 0.322510055762 | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | N | None | 1.65399E-04 | 0 | None | 0 | 1.02817E-04 | None | 9.81E-05 | None | 0 | 3.13E-05 | 0 |
| A/V | rs199583938 |
-0.053 | 0.958 | N | 0.291 | 0.163 | 0.322510055762 | gnomAD-3.1.2 | 9.87E-05 | None | None | None | None | N | None | 2.17286E-04 | 0 | 0 | 0 | 1.94099E-04 | None | 9.43E-05 | 0 | 4.41E-05 | 2.07211E-04 | 0 |
| A/V | rs199583938 |
-0.053 | 0.958 | N | 0.291 | 0.163 | 0.322510055762 | gnomAD-4.0.0 | 3.96696E-05 | None | None | None | None | N | None | 1.87001E-04 | 0 | None | 0 | 8.92738E-05 | None | 1.56255E-05 | 1.64474E-04 | 2.79757E-05 | 1.20786E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5173 | ambiguous | 0.5141 | ambiguous | -0.758 | Destabilizing | 0.998 | D | 0.299 | neutral | None | None | None | None | N |
| A/D | 0.2643 | likely_benign | 0.2135 | benign | -0.453 | Destabilizing | 0.842 | D | 0.375 | neutral | None | None | None | None | N |
| A/E | 0.2636 | likely_benign | 0.2196 | benign | -0.6 | Destabilizing | 0.837 | D | 0.312 | neutral | N | 0.417938087 | None | None | N |
| A/F | 0.3914 | ambiguous | 0.3674 | ambiguous | -0.999 | Destabilizing | 0.991 | D | 0.359 | neutral | None | None | None | None | N |
| A/G | 0.1583 | likely_benign | 0.1524 | benign | -0.503 | Destabilizing | 0.954 | D | 0.291 | neutral | N | 0.395346442 | None | None | N |
| A/H | 0.4878 | ambiguous | 0.464 | ambiguous | -0.615 | Destabilizing | 0.993 | D | 0.353 | neutral | None | None | None | None | N |
| A/I | 0.2108 | likely_benign | 0.2149 | benign | -0.416 | Destabilizing | 0.949 | D | 0.299 | neutral | None | None | None | None | N |
| A/K | 0.4658 | ambiguous | 0.4219 | ambiguous | -0.724 | Destabilizing | 0.728 | D | 0.305 | neutral | None | None | None | None | N |
| A/L | 0.145 | likely_benign | 0.1467 | benign | -0.416 | Destabilizing | 0.842 | D | 0.311 | neutral | None | None | None | None | N |
| A/M | 0.194 | likely_benign | 0.2026 | benign | -0.375 | Destabilizing | 0.998 | D | 0.287 | neutral | None | None | None | None | N |
| A/N | 0.2225 | likely_benign | 0.2037 | benign | -0.376 | Destabilizing | 0.974 | D | 0.376 | neutral | None | None | None | None | N |
| A/P | 0.1181 | likely_benign | 0.1134 | benign | -0.385 | Destabilizing | 0.005 | N | 0.234 | neutral | N | 0.427059003 | None | None | N |
| A/Q | 0.3459 | ambiguous | 0.3162 | benign | -0.655 | Destabilizing | 0.325 | N | 0.275 | neutral | None | None | None | None | N |
| A/R | 0.4523 | ambiguous | 0.4096 | ambiguous | -0.29 | Destabilizing | 0.949 | D | 0.301 | neutral | None | None | None | None | N |
| A/S | 0.0906 | likely_benign | 0.0885 | benign | -0.603 | Destabilizing | 0.454 | N | 0.326 | neutral | N | 0.413358987 | None | None | N |
| A/T | 0.0845 | likely_benign | 0.087 | benign | -0.67 | Destabilizing | 0.051 | N | 0.253 | neutral | N | 0.418516877 | None | None | N |
| A/V | 0.1127 | likely_benign | 0.1151 | benign | -0.385 | Destabilizing | 0.958 | D | 0.291 | neutral | N | 0.460595573 | None | None | N |
| A/W | 0.7681 | likely_pathogenic | 0.7344 | pathogenic | -1.151 | Destabilizing | 0.998 | D | 0.491 | neutral | None | None | None | None | N |
| A/Y | 0.5334 | ambiguous | 0.4888 | ambiguous | -0.798 | Destabilizing | 0.991 | D | 0.357 | 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.