Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32057 | 96394;96395;96396 | chr2:178543975;178543974;178543973 | chr2:179408702;179408701;179408700 |
| N2AB | 30416 | 91471;91472;91473 | chr2:178543975;178543974;178543973 | chr2:179408702;179408701;179408700 |
| N2A | 29489 | 88690;88691;88692 | chr2:178543975;178543974;178543973 | chr2:179408702;179408701;179408700 |
| N2B | 22992 | 69199;69200;69201 | chr2:178543975;178543974;178543973 | chr2:179408702;179408701;179408700 |
| Novex-1 | 23117 | 69574;69575;69576 | chr2:178543975;178543974;178543973 | chr2:179408702;179408701;179408700 |
| Novex-2 | 23184 | 69775;69776;69777 | chr2:178543975;178543974;178543973 | chr2:179408702;179408701;179408700 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.915 | N | 0.363 | 0.509 | 0.563432924419 | gnomAD-4.0.0 | 1.59141E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85874E-06 | 0 | 0 |
| S/G | rs766521706  |
-0.039 | 0.027 | N | 0.276 | 0.255 | 0.303453137403 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/N | None | None | None | N | 0.149 | 0.191 | 0.0611884634855 | gnomAD-4.0.0 | 6.36568E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14351E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0827 | likely_benign | 0.0864 | benign | -0.141 | Destabilizing | 0.067 | N | 0.324 | neutral | None | None | None | None | I |
| S/C | 0.1153 | likely_benign | 0.1072 | benign | -0.287 | Destabilizing | 0.915 | D | 0.363 | neutral | N | 0.505272431 | None | None | I |
| S/D | 0.2588 | likely_benign | 0.2215 | benign | -0.014 | Destabilizing | 0.081 | N | 0.257 | neutral | None | None | None | None | I |
| S/E | 0.3522 | ambiguous | 0.3149 | benign | -0.124 | Destabilizing | 0.081 | N | 0.263 | neutral | None | None | None | None | I |
| S/F | 0.274 | likely_benign | 0.2617 | benign | -0.885 | Destabilizing | 0.791 | D | 0.414 | neutral | None | None | None | None | I |
| S/G | 0.0717 | likely_benign | 0.0682 | benign | -0.192 | Destabilizing | 0.027 | N | 0.276 | neutral | N | 0.451195883 | None | None | I |
| S/H | 0.2185 | likely_benign | 0.192 | benign | -0.591 | Destabilizing | 0.38 | N | 0.333 | neutral | None | None | None | None | I |
| S/I | 0.1842 | likely_benign | 0.1674 | benign | -0.141 | Destabilizing | 0.317 | N | 0.417 | neutral | N | 0.519690389 | None | None | I |
| S/K | 0.3905 | ambiguous | 0.3454 | ambiguous | -0.374 | Destabilizing | 0.081 | N | 0.264 | neutral | None | None | None | None | I |
| S/L | 0.1289 | likely_benign | 0.1272 | benign | -0.141 | Destabilizing | 0.149 | N | 0.389 | neutral | None | None | None | None | I |
| S/M | 0.2036 | likely_benign | 0.1972 | benign | -0.046 | Destabilizing | 0.935 | D | 0.343 | neutral | None | None | None | None | I |
| S/N | 0.0863 | likely_benign | 0.074 | benign | -0.126 | Destabilizing | None | N | 0.149 | neutral | N | 0.454446832 | None | None | I |
| S/P | 0.2951 | likely_benign | 0.3004 | benign | -0.116 | Destabilizing | 0.555 | D | 0.335 | neutral | None | None | None | None | I |
| S/Q | 0.3007 | likely_benign | 0.271 | benign | -0.364 | Destabilizing | 0.38 | N | 0.283 | neutral | None | None | None | None | I |
| S/R | 0.3658 | ambiguous | 0.3198 | benign | -0.134 | Destabilizing | 0.317 | N | 0.33 | neutral | N | 0.47105108 | None | None | I |
| S/T | 0.0804 | likely_benign | 0.0802 | benign | -0.22 | Destabilizing | 0.001 | N | 0.145 | neutral | N | 0.454100115 | None | None | I |
| S/V | 0.1731 | likely_benign | 0.1659 | benign | -0.116 | Destabilizing | 0.149 | N | 0.435 | neutral | None | None | None | None | I |
| S/W | 0.4102 | ambiguous | 0.3692 | ambiguous | -0.973 | Destabilizing | 0.935 | D | 0.5 | neutral | None | None | None | None | I |
| S/Y | 0.2009 | likely_benign | 0.1823 | benign | -0.652 | Destabilizing | 0.791 | D | 0.414 | 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.