Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17188 | 51787;51788;51789 | chr2:178609861;178609860;178609859 | chr2:179474588;179474587;179474586 |
| N2AB | 15547 | 46864;46865;46866 | chr2:178609861;178609860;178609859 | chr2:179474588;179474587;179474586 |
| N2A | 14620 | 44083;44084;44085 | chr2:178609861;178609860;178609859 | chr2:179474588;179474587;179474586 |
| N2B | 8123 | 24592;24593;24594 | chr2:178609861;178609860;178609859 | chr2:179474588;179474587;179474586 |
| Novex-1 | 8248 | 24967;24968;24969 | chr2:178609861;178609860;178609859 | chr2:179474588;179474587;179474586 |
| Novex-2 | 8315 | 25168;25169;25170 | chr2:178609861;178609860;178609859 | chr2:179474588;179474587;179474586 |
| 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/S | rs1324072715  |
-1.201 | 0.012 | N | 0.379 | 0.053 | 0.156986980423 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/S | rs1324072715 |
-1.201 | 0.012 | N | 0.379 | 0.053 | 0.156986980423 | gnomAD-4.0.0 | 1.59263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43336E-05 | 0 |
| A/T | None | None | None | N | 0.255 | 0.053 | 0.162503812791 | gnomAD-4.0.0 | 1.59263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86149E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4446 | ambiguous | 0.4632 | ambiguous | -0.7 | Destabilizing | 0.676 | D | 0.494 | neutral | None | None | None | None | N |
| A/D | 0.4693 | ambiguous | 0.4604 | ambiguous | -1.29 | Destabilizing | 0.055 | N | 0.454 | neutral | N | 0.390149345 | None | None | N |
| A/E | 0.262 | likely_benign | 0.2582 | benign | -1.29 | Destabilizing | 0.038 | N | 0.415 | neutral | None | None | None | None | N |
| A/F | 0.3975 | ambiguous | 0.4339 | ambiguous | -0.863 | Destabilizing | 0.214 | N | 0.515 | neutral | None | None | None | None | N |
| A/G | 0.1516 | likely_benign | 0.1461 | benign | -1.19 | Destabilizing | None | N | 0.13 | neutral | N | 0.436268424 | None | None | N |
| A/H | 0.575 | likely_pathogenic | 0.591 | pathogenic | -1.431 | Destabilizing | 0.356 | N | 0.482 | neutral | None | None | None | None | N |
| A/I | 0.2485 | likely_benign | 0.2939 | benign | -0.254 | Destabilizing | 0.013 | N | 0.4 | neutral | None | None | None | None | N |
| A/K | 0.5091 | ambiguous | 0.516 | ambiguous | -1.255 | Destabilizing | 0.038 | N | 0.417 | neutral | None | None | None | None | N |
| A/L | 0.1757 | likely_benign | 0.1995 | benign | -0.254 | Destabilizing | 0.016 | N | 0.402 | neutral | None | None | None | None | N |
| A/M | 0.2404 | likely_benign | 0.278 | benign | -0.178 | Destabilizing | 0.016 | N | 0.397 | neutral | None | None | None | None | N |
| A/N | 0.3514 | ambiguous | 0.3496 | ambiguous | -0.951 | Destabilizing | 0.214 | N | 0.459 | neutral | None | None | None | None | N |
| A/P | 0.2053 | likely_benign | 0.1825 | benign | -0.428 | Destabilizing | None | N | 0.267 | neutral | N | 0.411388622 | None | None | N |
| A/Q | 0.2977 | likely_benign | 0.3055 | benign | -1.067 | Destabilizing | 0.003 | N | 0.219 | neutral | None | None | None | None | N |
| A/R | 0.4614 | ambiguous | 0.478 | ambiguous | -0.944 | Destabilizing | 0.072 | N | 0.465 | neutral | None | None | None | None | N |
| A/S | 0.1016 | likely_benign | 0.1014 | benign | -1.285 | Destabilizing | 0.012 | N | 0.379 | neutral | N | 0.407233596 | None | None | N |
| A/T | 0.1139 | likely_benign | 0.1192 | benign | -1.195 | Destabilizing | None | N | 0.255 | neutral | N | 0.416199796 | None | None | N |
| A/V | 0.1447 | likely_benign | 0.1641 | benign | -0.428 | Destabilizing | None | N | 0.269 | neutral | N | 0.423608558 | None | None | N |
| A/W | 0.7795 | likely_pathogenic | 0.812 | pathogenic | -1.29 | Destabilizing | 0.864 | D | 0.531 | neutral | None | None | None | None | N |
| A/Y | 0.5894 | likely_pathogenic | 0.6198 | pathogenic | -0.871 | Destabilizing | 0.356 | N | 0.512 | 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.