Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17522 | 52789;52790;52791 | chr2:178608319;178608318;178608317 | chr2:179473046;179473045;179473044 |
| N2AB | 15881 | 47866;47867;47868 | chr2:178608319;178608318;178608317 | chr2:179473046;179473045;179473044 |
| N2A | 14954 | 45085;45086;45087 | chr2:178608319;178608318;178608317 | chr2:179473046;179473045;179473044 |
| N2B | 8457 | 25594;25595;25596 | chr2:178608319;178608318;178608317 | chr2:179473046;179473045;179473044 |
| Novex-1 | 8582 | 25969;25970;25971 | chr2:178608319;178608318;178608317 | chr2:179473046;179473045;179473044 |
| Novex-2 | 8649 | 26170;26171;26172 | chr2:178608319;178608318;178608317 | chr2:179473046;179473045;179473044 |
| 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/G | None | None | 0.012 | N | 0.196 | 0.065 | 0.0884992946249 | gnomAD-4.0.0 | 6.84751E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.53537E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | None | None | None | N | 0.105 | 0.135 | 0.0297737177859 | gnomAD-4.0.0 | 1.59432E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86261E-06 | 0 | 0 |
| S/R | None | None | 0.055 | N | 0.415 | 0.066 | 0.149567049428 | gnomAD-4.0.0 | 6.84751E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99886E-07 | 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 | 0.0802 | likely_benign | 0.0906 | benign | -0.364 | Destabilizing | None | N | 0.104 | neutral | None | None | None | None | I |
| S/C | 0.0753 | likely_benign | 0.0794 | benign | -0.435 | Destabilizing | None | N | 0.155 | neutral | N | 0.515270712 | None | None | I |
| S/D | 0.1681 | likely_benign | 0.2068 | benign | 0.544 | Stabilizing | None | N | 0.105 | neutral | None | None | None | None | I |
| S/E | 0.2269 | likely_benign | 0.2602 | benign | 0.487 | Stabilizing | 0.016 | N | 0.172 | neutral | None | None | None | None | I |
| S/F | 0.1429 | likely_benign | 0.1653 | benign | -0.962 | Destabilizing | 0.356 | N | 0.331 | neutral | None | None | None | None | I |
| S/G | 0.0769 | likely_benign | 0.0831 | benign | -0.48 | Destabilizing | 0.012 | N | 0.196 | neutral | N | 0.413586352 | None | None | I |
| S/H | 0.1415 | likely_benign | 0.1606 | benign | -0.674 | Destabilizing | 0.214 | N | 0.295 | neutral | None | None | None | None | I |
| S/I | 0.0853 | likely_benign | 0.0967 | benign | -0.183 | Destabilizing | 0.029 | N | 0.414 | neutral | N | 0.447122923 | None | None | I |
| S/K | 0.2839 | likely_benign | 0.3348 | benign | -0.221 | Destabilizing | 0.038 | N | 0.164 | neutral | None | None | None | None | I |
| S/L | 0.105 | likely_benign | 0.1154 | benign | -0.183 | Destabilizing | 0.038 | N | 0.298 | neutral | None | None | None | None | I |
| S/M | 0.1251 | likely_benign | 0.1364 | benign | -0.307 | Destabilizing | 0.356 | N | 0.294 | neutral | None | None | None | None | I |
| S/N | 0.055 | likely_benign | 0.0643 | benign | -0.166 | Destabilizing | None | N | 0.105 | neutral | N | 0.415991939 | None | None | I |
| S/P | 0.4983 | ambiguous | 0.5518 | ambiguous | -0.215 | Destabilizing | 0.136 | N | 0.413 | neutral | None | None | None | None | I |
| S/Q | 0.2029 | likely_benign | 0.2419 | benign | -0.275 | Destabilizing | 0.214 | N | 0.278 | neutral | None | None | None | None | I |
| S/R | 0.2807 | likely_benign | 0.3325 | benign | -0.026 | Destabilizing | 0.055 | N | 0.415 | neutral | N | 0.446256131 | None | None | I |
| S/T | 0.0601 | likely_benign | 0.0658 | benign | -0.271 | Destabilizing | None | N | 0.112 | neutral | N | 0.380204497 | None | None | I |
| S/V | 0.0922 | likely_benign | 0.1088 | benign | -0.215 | Destabilizing | 0.038 | N | 0.284 | neutral | None | None | None | None | I |
| S/W | 0.2868 | likely_benign | 0.2958 | benign | -1.02 | Destabilizing | 0.864 | D | 0.338 | neutral | None | None | None | None | I |
| S/Y | 0.1152 | likely_benign | 0.1221 | benign | -0.69 | Destabilizing | 0.356 | N | 0.327 | 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.