Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25882 | 77869;77870;77871 | chr2:178568488;178568487;178568486 | chr2:179433215;179433214;179433213 |
| N2AB | 24241 | 72946;72947;72948 | chr2:178568488;178568487;178568486 | chr2:179433215;179433214;179433213 |
| N2A | 23314 | 70165;70166;70167 | chr2:178568488;178568487;178568486 | chr2:179433215;179433214;179433213 |
| N2B | 16817 | 50674;50675;50676 | chr2:178568488;178568487;178568486 | chr2:179433215;179433214;179433213 |
| Novex-1 | 16942 | 51049;51050;51051 | chr2:178568488;178568487;178568486 | chr2:179433215;179433214;179433213 |
| Novex-2 | 17009 | 51250;51251;51252 | chr2:178568488;178568487;178568486 | chr2:179433215;179433214;179433213 |
| 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/F | rs1300031734  |
None | 0.295 | N | 0.673 | 0.395 | 0.615709377971 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs1300031734 |
None | 0.295 | N | 0.673 | 0.395 | 0.615709377971 | gnomAD-4.0.0 | 6.58033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47137E-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 | 0.0648 | likely_benign | 0.062 | benign | -0.484 | Destabilizing | None | N | 0.145 | neutral | N | 0.515473861 | None | None | N |
| S/C | 0.09 | likely_benign | 0.0809 | benign | -0.275 | Destabilizing | 0.612 | D | 0.603 | neutral | N | 0.513043884 | None | None | N |
| S/D | 0.202 | likely_benign | 0.1725 | benign | 0.172 | Stabilizing | 0.038 | N | 0.439 | neutral | None | None | None | None | N |
| S/E | 0.2919 | likely_benign | 0.2466 | benign | 0.092 | Stabilizing | 0.072 | N | 0.439 | neutral | None | None | None | None | N |
| S/F | 0.0984 | likely_benign | 0.0915 | benign | -0.995 | Destabilizing | 0.295 | N | 0.673 | neutral | N | 0.513043884 | None | None | N |
| S/G | 0.0928 | likely_benign | 0.0848 | benign | -0.626 | Destabilizing | 0.016 | N | 0.402 | neutral | None | None | None | None | N |
| S/H | 0.1756 | likely_benign | 0.151 | benign | -1.173 | Destabilizing | 0.356 | N | 0.627 | neutral | None | None | None | None | N |
| S/I | 0.0925 | likely_benign | 0.0809 | benign | -0.236 | Destabilizing | 0.214 | N | 0.706 | prob.neutral | None | None | None | None | N |
| S/K | 0.3422 | ambiguous | 0.277 | benign | -0.515 | Destabilizing | 0.072 | N | 0.44 | neutral | None | None | None | None | N |
| S/L | 0.0663 | likely_benign | 0.0662 | benign | -0.236 | Destabilizing | 0.038 | N | 0.609 | neutral | None | None | None | None | N |
| S/M | 0.1246 | likely_benign | 0.1108 | benign | 0.046 | Stabilizing | 0.356 | N | 0.619 | neutral | None | None | None | None | N |
| S/N | 0.0836 | likely_benign | 0.0737 | benign | -0.215 | Destabilizing | None | N | 0.155 | neutral | None | None | None | None | N |
| S/P | 0.2115 | likely_benign | 0.2009 | benign | -0.289 | Destabilizing | None | N | 0.236 | neutral | N | 0.489824294 | None | None | N |
| S/Q | 0.2737 | likely_benign | 0.2238 | benign | -0.458 | Destabilizing | 0.356 | N | 0.564 | neutral | None | None | None | None | N |
| S/R | 0.2968 | likely_benign | 0.2477 | benign | -0.349 | Destabilizing | 0.072 | N | 0.638 | neutral | None | None | None | None | N |
| S/T | 0.0604 | likely_benign | 0.0568 | benign | -0.324 | Destabilizing | None | N | 0.151 | neutral | N | 0.433260696 | None | None | N |
| S/V | 0.0931 | likely_benign | 0.0827 | benign | -0.289 | Destabilizing | 0.038 | N | 0.621 | neutral | None | None | None | None | N |
| S/W | 0.2097 | likely_benign | 0.194 | benign | -0.978 | Destabilizing | 0.864 | D | 0.7 | prob.neutral | None | None | None | None | N |
| S/Y | 0.1096 | likely_benign | 0.102 | benign | -0.709 | Destabilizing | 0.295 | N | 0.673 | neutral | N | 0.501434089 | 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.