Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29182 | 87769;87770;87771 | chr2:178557810;178557809;178557808 | chr2:179422537;179422536;179422535 |
| N2AB | 27541 | 82846;82847;82848 | chr2:178557810;178557809;178557808 | chr2:179422537;179422536;179422535 |
| N2A | 26614 | 80065;80066;80067 | chr2:178557810;178557809;178557808 | chr2:179422537;179422536;179422535 |
| N2B | 20117 | 60574;60575;60576 | chr2:178557810;178557809;178557808 | chr2:179422537;179422536;179422535 |
| Novex-1 | 20242 | 60949;60950;60951 | chr2:178557810;178557809;178557808 | chr2:179422537;179422536;179422535 |
| Novex-2 | 20309 | 61150;61151;61152 | chr2:178557810;178557809;178557808 | chr2:179422537;179422536;179422535 |
| 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/I | rs1215379633  |
None | 0.999 | N | 0.605 | 0.393 | 0.402326594622 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1215379633 |
None | 0.999 | N | 0.605 | 0.393 | 0.402326594622 | gnomAD-4.0.0 | 6.56996E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | 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 | 0.0845 | likely_benign | 0.1012 | benign | -0.383 | Destabilizing | 0.981 | D | 0.383 | neutral | N | 0.467178502 | None | None | N |
| T/C | 0.4074 | ambiguous | 0.4975 | ambiguous | -0.237 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/D | 0.4288 | ambiguous | 0.558 | ambiguous | 0.122 | Stabilizing | 0.999 | D | 0.567 | neutral | None | None | None | None | N |
| T/E | 0.358 | ambiguous | 0.4878 | ambiguous | 0.032 | Stabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| T/F | 0.3333 | likely_benign | 0.4345 | ambiguous | -0.931 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/G | 0.219 | likely_benign | 0.2635 | benign | -0.487 | Destabilizing | 0.997 | D | 0.471 | neutral | None | None | None | None | N |
| T/H | 0.2726 | likely_benign | 0.3499 | ambiguous | -0.803 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| T/I | 0.2833 | likely_benign | 0.4136 | ambiguous | -0.231 | Destabilizing | 0.999 | D | 0.605 | neutral | N | 0.503186429 | None | None | N |
| T/K | 0.2157 | likely_benign | 0.2732 | benign | -0.334 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| T/L | 0.1126 | likely_benign | 0.1407 | benign | -0.231 | Destabilizing | 0.998 | D | 0.473 | neutral | None | None | None | None | N |
| T/M | 0.0984 | likely_benign | 0.1158 | benign | 0.023 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/N | 0.1271 | likely_benign | 0.1581 | benign | -0.076 | Destabilizing | 0.999 | D | 0.553 | neutral | N | 0.518153515 | None | None | N |
| T/P | 0.4748 | ambiguous | 0.5558 | ambiguous | -0.255 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.470839033 | None | None | N |
| T/Q | 0.2375 | likely_benign | 0.3009 | benign | -0.352 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| T/R | 0.1897 | likely_benign | 0.236 | benign | -0.048 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| T/S | 0.0958 | likely_benign | 0.1118 | benign | -0.291 | Destabilizing | 0.905 | D | 0.305 | neutral | N | 0.42043218 | None | None | N |
| T/V | 0.174 | likely_benign | 0.254 | benign | -0.255 | Destabilizing | 0.998 | D | 0.42 | neutral | None | None | None | None | N |
| T/W | 0.7172 | likely_pathogenic | 0.7828 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/Y | 0.4085 | ambiguous | 0.4771 | ambiguous | -0.642 | Destabilizing | 1.0 | D | 0.704 | prob.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.