Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16470 | 49633;49634;49635 | chr2:178613875;178613874;178613873 | chr2:179478602;179478601;179478600 |
| N2AB | 14829 | 44710;44711;44712 | chr2:178613875;178613874;178613873 | chr2:179478602;179478601;179478600 |
| N2A | 13902 | 41929;41930;41931 | chr2:178613875;178613874;178613873 | chr2:179478602;179478601;179478600 |
| N2B | 7405 | 22438;22439;22440 | chr2:178613875;178613874;178613873 | chr2:179478602;179478601;179478600 |
| Novex-1 | 7530 | 22813;22814;22815 | chr2:178613875;178613874;178613873 | chr2:179478602;179478601;179478600 |
| Novex-2 | 7597 | 23014;23015;23016 | chr2:178613875;178613874;178613873 | chr2:179478602;179478601;179478600 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.103 | N | 0.278 | 0.116 | 0.139678290688 | gnomAD-4.0.0 | 1.20044E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31263E-06 | 0 | 0 |
| T/P | None | None | 0.984 | D | 0.611 | 0.39 | 0.473065174198 | gnomAD-4.0.0 | 2.40094E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62533E-06 | 0 | 0 |
| T/R | rs1403110773  |
-0.519 | 0.968 | N | 0.615 | 0.328 | 0.595757661845 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs1403110773 |
-0.519 | 0.968 | N | 0.615 | 0.328 | 0.595757661845 | gnomAD-4.0.0 | 1.59644E-06 | None | None | None | None | N | None | 0 | 2.2979E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1298 | likely_benign | 0.1239 | benign | -1.033 | Destabilizing | 0.103 | N | 0.278 | neutral | N | 0.469027006 | None | None | N |
| T/C | 0.3939 | ambiguous | 0.3766 | ambiguous | -0.751 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | N |
| T/D | 0.6023 | likely_pathogenic | 0.6206 | pathogenic | -1.245 | Destabilizing | 0.976 | D | 0.569 | neutral | None | None | None | None | N |
| T/E | 0.4851 | ambiguous | 0.5074 | ambiguous | -1.112 | Destabilizing | 0.919 | D | 0.522 | neutral | None | None | None | None | N |
| T/F | 0.3438 | ambiguous | 0.3228 | benign | -0.837 | Destabilizing | 0.996 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/G | 0.3425 | ambiguous | 0.3237 | benign | -1.407 | Destabilizing | 0.851 | D | 0.527 | neutral | None | None | None | None | N |
| T/H | 0.2629 | likely_benign | 0.2545 | benign | -1.669 | Destabilizing | 0.999 | D | 0.72 | prob.delet. | None | None | None | None | N |
| T/I | 0.229 | likely_benign | 0.2214 | benign | -0.078 | Destabilizing | 0.984 | D | 0.599 | neutral | D | 0.542757607 | None | None | N |
| T/K | 0.2927 | likely_benign | 0.2988 | benign | -0.665 | Destabilizing | 0.896 | D | 0.536 | neutral | N | 0.472730431 | None | None | N |
| T/L | 0.1487 | likely_benign | 0.1374 | benign | -0.078 | Destabilizing | 0.919 | D | 0.452 | neutral | None | None | None | None | N |
| T/M | 0.1216 | likely_benign | 0.1151 | benign | 0.043 | Stabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | N |
| T/N | 0.1509 | likely_benign | 0.1481 | benign | -1.132 | Destabilizing | 0.976 | D | 0.482 | neutral | None | None | None | None | N |
| T/P | 0.8487 | likely_pathogenic | 0.8455 | pathogenic | -0.364 | Destabilizing | 0.984 | D | 0.611 | neutral | D | 0.646508865 | None | None | N |
| T/Q | 0.2467 | likely_benign | 0.2433 | benign | -1.058 | Destabilizing | 0.988 | D | 0.623 | neutral | None | None | None | None | N |
| T/R | 0.2656 | likely_benign | 0.2729 | benign | -0.719 | Destabilizing | 0.968 | D | 0.615 | neutral | N | 0.481544496 | None | None | N |
| T/S | 0.127 | likely_benign | 0.1243 | benign | -1.336 | Destabilizing | 0.103 | N | 0.257 | neutral | N | 0.40658526 | None | None | N |
| T/V | 0.1793 | likely_benign | 0.1704 | benign | -0.364 | Destabilizing | 0.919 | D | 0.375 | neutral | None | None | None | None | N |
| T/W | 0.6888 | likely_pathogenic | 0.6799 | pathogenic | -0.934 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/Y | 0.3455 | ambiguous | 0.3388 | benign | -0.587 | Destabilizing | 0.996 | D | 0.737 | prob.delet. | 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.