Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8119 | 24580;24581;24582 | chr2:178718845;178718844;178718843 | chr2:179583572;179583571;179583570 |
| N2AB | 7802 | 23629;23630;23631 | chr2:178718845;178718844;178718843 | chr2:179583572;179583571;179583570 |
| N2A | 6875 | 20848;20849;20850 | chr2:178718845;178718844;178718843 | chr2:179583572;179583571;179583570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs758744997  |
-0.387 | 0.101 | N | 0.221 | 0.241 | 0.372446077551 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 1.69847E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs758744997 |
-0.387 | 0.101 | N | 0.221 | 0.241 | 0.372446077551 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs758744997 |
-0.387 | 0.101 | N | 0.221 | 0.241 | 0.372446077551 | gnomAD-4.0.0 | 8.96893E-06 | None | None | None | None | N | None | 0 | 1.18648E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | None | None | 0.351 | N | 0.401 | 0.255 | 0.59966951432 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| V/M | rs1232702196 |
-0.477 | 0.047 | N | 0.163 | 0.23 | 0.336892272479 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs1232702196 |
-0.477 | 0.047 | N | 0.163 | 0.23 | 0.336892272479 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1259 | likely_benign | 0.1279 | benign | -0.398 | Destabilizing | 0.101 | N | 0.221 | neutral | N | 0.470141429 | None | None | N |
| V/C | 0.6611 | likely_pathogenic | 0.6616 | pathogenic | -0.759 | Destabilizing | 0.983 | D | 0.351 | neutral | None | None | None | None | N |
| V/D | 0.17 | likely_benign | 0.1869 | benign | -0.395 | Destabilizing | 0.264 | N | 0.418 | neutral | None | None | None | None | N |
| V/E | 0.1399 | likely_benign | 0.1471 | benign | -0.497 | Destabilizing | 0.001 | N | 0.202 | neutral | N | 0.472661659 | None | None | N |
| V/F | 0.09 | likely_benign | 0.0978 | benign | -0.641 | Destabilizing | 0.716 | D | 0.399 | neutral | None | None | None | None | N |
| V/G | 0.1301 | likely_benign | 0.1376 | benign | -0.504 | Destabilizing | 0.351 | N | 0.401 | neutral | N | 0.489844698 | None | None | N |
| V/H | 0.3058 | likely_benign | 0.315 | benign | -0.021 | Destabilizing | 0.836 | D | 0.361 | neutral | None | None | None | None | N |
| V/I | 0.0743 | likely_benign | 0.0756 | benign | -0.26 | Destabilizing | 0.01 | N | 0.184 | neutral | None | None | None | None | N |
| V/K | 0.1808 | likely_benign | 0.19 | benign | -0.465 | Destabilizing | 0.264 | N | 0.377 | neutral | None | None | None | None | N |
| V/L | 0.0945 | likely_benign | 0.0988 | benign | -0.26 | Destabilizing | 0.001 | N | 0.101 | neutral | N | 0.458599071 | None | None | N |
| V/M | 0.1114 | likely_benign | 0.1171 | benign | -0.54 | Destabilizing | 0.047 | N | 0.163 | neutral | N | 0.51918617 | None | None | N |
| V/N | 0.1557 | likely_benign | 0.1696 | benign | -0.276 | Destabilizing | 0.716 | D | 0.416 | neutral | None | None | None | None | N |
| V/P | 0.3368 | likely_benign | 0.3386 | benign | -0.275 | Destabilizing | 0.836 | D | 0.398 | neutral | None | None | None | None | N |
| V/Q | 0.1661 | likely_benign | 0.1741 | benign | -0.48 | Destabilizing | 0.557 | D | 0.403 | neutral | None | None | None | None | N |
| V/R | 0.1595 | likely_benign | 0.1694 | benign | 0.018 | Stabilizing | 0.005 | N | 0.284 | neutral | None | None | None | None | N |
| V/S | 0.1207 | likely_benign | 0.1273 | benign | -0.594 | Destabilizing | 0.264 | N | 0.377 | neutral | None | None | None | None | N |
| V/T | 0.1375 | likely_benign | 0.1362 | benign | -0.597 | Destabilizing | 0.002 | N | 0.157 | neutral | None | None | None | None | N |
| V/W | 0.5716 | likely_pathogenic | 0.5703 | pathogenic | -0.717 | Destabilizing | 0.983 | D | 0.395 | neutral | None | None | None | None | N |
| V/Y | 0.3317 | likely_benign | 0.3395 | benign | -0.435 | Destabilizing | 0.94 | D | 0.381 | 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.