Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19626 | 59101;59102;59103 | chr2:178593332;178593331;178593330 | chr2:179458059;179458058;179458057 |
| N2AB | 17985 | 54178;54179;54180 | chr2:178593332;178593331;178593330 | chr2:179458059;179458058;179458057 |
| N2A | 17058 | 51397;51398;51399 | chr2:178593332;178593331;178593330 | chr2:179458059;179458058;179458057 |
| N2B | 10561 | 31906;31907;31908 | chr2:178593332;178593331;178593330 | chr2:179458059;179458058;179458057 |
| Novex-1 | 10686 | 32281;32282;32283 | chr2:178593332;178593331;178593330 | chr2:179458059;179458058;179458057 |
| Novex-2 | 10753 | 32482;32483;32484 | chr2:178593332;178593331;178593330 | chr2:179458059;179458058;179458057 |
| 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/T | rs371278320  |
-0.774 | 0.062 | N | 0.407 | 0.176 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| A/T | rs371278320 |
-0.774 | 0.062 | N | 0.407 | 0.176 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| A/T | rs371278320 |
-0.774 | 0.062 | N | 0.407 | 0.176 | None | gnomAD-4.0.0 | 3.34718E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.40839E-05 | 0 | 3.20184E-05 |
| A/V | None | None | None | N | 0.106 | 0.09 | 0.198526703765 | gnomAD-4.0.0 | 1.59203E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4071 | ambiguous | 0.4237 | ambiguous | -0.712 | Destabilizing | 0.824 | D | 0.422 | neutral | None | None | None | None | N |
| A/D | 0.5589 | ambiguous | 0.519 | ambiguous | -0.935 | Destabilizing | 0.062 | N | 0.377 | neutral | N | 0.452699314 | None | None | N |
| A/E | 0.4559 | ambiguous | 0.4004 | ambiguous | -0.995 | Destabilizing | 0.149 | N | 0.35 | neutral | None | None | None | None | N |
| A/F | 0.3424 | ambiguous | 0.3291 | benign | -0.906 | Destabilizing | 0.38 | N | 0.4 | neutral | None | None | None | None | N |
| A/G | 0.1569 | likely_benign | 0.1541 | benign | -0.962 | Destabilizing | None | N | 0.116 | neutral | N | 0.490833628 | None | None | N |
| A/H | 0.5347 | ambiguous | 0.5146 | ambiguous | -1.016 | Destabilizing | 0.824 | D | 0.383 | neutral | None | None | None | None | N |
| A/I | 0.1839 | likely_benign | 0.171 | benign | -0.376 | Destabilizing | 0.029 | N | 0.337 | neutral | None | None | None | None | N |
| A/K | 0.6847 | likely_pathogenic | 0.6274 | pathogenic | -1.139 | Destabilizing | 0.149 | N | 0.348 | neutral | None | None | None | None | N |
| A/L | 0.1584 | likely_benign | 0.153 | benign | -0.376 | Destabilizing | 0.081 | N | 0.406 | neutral | None | None | None | None | N |
| A/M | 0.1753 | likely_benign | 0.1665 | benign | -0.341 | Destabilizing | 0.38 | N | 0.383 | neutral | None | None | None | None | N |
| A/N | 0.2413 | likely_benign | 0.2351 | benign | -0.814 | Destabilizing | 0.002 | N | 0.31 | neutral | None | None | None | None | N |
| A/P | 0.8407 | likely_pathogenic | 0.806 | pathogenic | -0.464 | Destabilizing | 0.741 | D | 0.407 | neutral | D | 0.524156767 | None | None | N |
| A/Q | 0.3744 | ambiguous | 0.3516 | ambiguous | -1.009 | Destabilizing | 0.555 | D | 0.413 | neutral | None | None | None | None | N |
| A/R | 0.6557 | likely_pathogenic | 0.5987 | pathogenic | -0.694 | Destabilizing | 0.555 | D | 0.408 | neutral | None | None | None | None | N |
| A/S | 0.0939 | likely_benign | 0.0919 | benign | -1.104 | Destabilizing | 0.117 | N | 0.475 | neutral | N | 0.397403391 | None | None | N |
| A/T | 0.0852 | likely_benign | 0.0827 | benign | -1.082 | Destabilizing | 0.062 | N | 0.407 | neutral | N | 0.381433861 | None | None | N |
| A/V | 0.1083 | likely_benign | 0.0978 | benign | -0.464 | Destabilizing | None | N | 0.106 | neutral | N | 0.38216458 | None | None | N |
| A/W | 0.7635 | likely_pathogenic | 0.7638 | pathogenic | -1.2 | Destabilizing | 0.935 | D | 0.537 | neutral | None | None | None | None | N |
| A/Y | 0.4689 | ambiguous | 0.4697 | ambiguous | -0.824 | Destabilizing | 0.555 | D | 0.391 | 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.