Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23874 | 71845;71846;71847 | chr2:178574512;178574511;178574510 | chr2:179439239;179439238;179439237 |
| N2AB | 22233 | 66922;66923;66924 | chr2:178574512;178574511;178574510 | chr2:179439239;179439238;179439237 |
| N2A | 21306 | 64141;64142;64143 | chr2:178574512;178574511;178574510 | chr2:179439239;179439238;179439237 |
| N2B | 14809 | 44650;44651;44652 | chr2:178574512;178574511;178574510 | chr2:179439239;179439238;179439237 |
| Novex-1 | 14934 | 45025;45026;45027 | chr2:178574512;178574511;178574510 | chr2:179439239;179439238;179439237 |
| Novex-2 | 15001 | 45226;45227;45228 | chr2:178574512;178574511;178574510 | chr2:179439239;179439238;179439237 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.78 | N | 0.443 | 0.179 | 0.165133752707 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85941E-06 | 0 | 0 |
| Q/H | rs779839196  |
-0.688 | 0.995 | N | 0.523 | 0.28 | 0.195762928549 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Q/H | rs779839196 |
-0.688 | 0.995 | N | 0.523 | 0.28 | 0.195762928549 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | None | None | 0.946 | N | 0.505 | 0.286 | 0.163833314356 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.3267 | likely_benign | 0.3098 | benign | -0.478 | Destabilizing | 0.702 | D | 0.491 | neutral | None | None | None | None | I |
| Q/C | 0.6763 | likely_pathogenic | 0.6335 | pathogenic | 0.041 | Stabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | I |
| Q/D | 0.5504 | ambiguous | 0.5021 | ambiguous | -0.202 | Destabilizing | 0.919 | D | 0.465 | neutral | None | None | None | None | I |
| Q/E | 0.117 | likely_benign | 0.1044 | benign | -0.179 | Destabilizing | 0.78 | D | 0.443 | neutral | N | 0.489564191 | None | None | I |
| Q/F | 0.7626 | likely_pathogenic | 0.7159 | pathogenic | -0.35 | Destabilizing | 0.988 | D | 0.635 | neutral | None | None | None | None | I |
| Q/G | 0.4285 | ambiguous | 0.3989 | ambiguous | -0.755 | Destabilizing | 0.919 | D | 0.501 | neutral | None | None | None | None | I |
| Q/H | 0.2126 | likely_benign | 0.2005 | benign | -0.583 | Destabilizing | 0.995 | D | 0.523 | neutral | N | 0.485523808 | None | None | I |
| Q/I | 0.4019 | ambiguous | 0.3775 | ambiguous | 0.191 | Stabilizing | 0.976 | D | 0.63 | neutral | None | None | None | None | I |
| Q/K | 0.164 | likely_benign | 0.137 | benign | -0.229 | Destabilizing | 0.896 | D | 0.483 | neutral | N | 0.476882895 | None | None | I |
| Q/L | 0.1721 | likely_benign | 0.1631 | benign | 0.191 | Stabilizing | 0.811 | D | 0.485 | neutral | N | 0.503589494 | None | None | I |
| Q/M | 0.3594 | ambiguous | 0.3372 | benign | 0.509 | Stabilizing | 0.996 | D | 0.524 | neutral | None | None | None | None | I |
| Q/N | 0.3119 | likely_benign | 0.3008 | benign | -0.622 | Destabilizing | 0.919 | D | 0.465 | neutral | None | None | None | None | I |
| Q/P | 0.8125 | likely_pathogenic | 0.7264 | pathogenic | -0.002 | Destabilizing | 0.984 | D | 0.525 | neutral | N | 0.489361362 | None | None | I |
| Q/R | 0.2088 | likely_benign | 0.1653 | benign | -0.06 | Destabilizing | 0.946 | D | 0.505 | neutral | N | 0.48375294 | None | None | I |
| Q/S | 0.3114 | likely_benign | 0.3188 | benign | -0.671 | Destabilizing | 0.851 | D | 0.468 | neutral | None | None | None | None | I |
| Q/T | 0.2231 | likely_benign | 0.2254 | benign | -0.474 | Destabilizing | 0.132 | N | 0.249 | neutral | None | None | None | None | I |
| Q/V | 0.2357 | likely_benign | 0.2258 | benign | -0.002 | Destabilizing | 0.851 | D | 0.506 | neutral | None | None | None | None | I |
| Q/W | 0.7737 | likely_pathogenic | 0.682 | pathogenic | -0.232 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | I |
| Q/Y | 0.5249 | ambiguous | 0.458 | ambiguous | -0.035 | Destabilizing | 0.996 | D | 0.558 | neutral | None | None | None | None | I |
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.