Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33059 | 99400;99401;99402 | chr2:178538654;178538653;178538652 | chr2:179403381;179403380;179403379 |
| N2AB | 31418 | 94477;94478;94479 | chr2:178538654;178538653;178538652 | chr2:179403381;179403380;179403379 |
| N2A | 30491 | 91696;91697;91698 | chr2:178538654;178538653;178538652 | chr2:179403381;179403380;179403379 |
| N2B | 23994 | 72205;72206;72207 | chr2:178538654;178538653;178538652 | chr2:179403381;179403380;179403379 |
| Novex-1 | 24119 | 72580;72581;72582 | chr2:178538654;178538653;178538652 | chr2:179403381;179403380;179403379 |
| Novex-2 | 24186 | 72781;72782;72783 | chr2:178538654;178538653;178538652 | chr2:179403381;179403380;179403379 |
| 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 | rs1038769207  |
-0.22 | 0.235 | N | 0.339 | 0.302 | 0.427139414373 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1038769207 |
-0.22 | 0.235 | N | 0.339 | 0.302 | 0.427139414373 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1038769207 |
-0.22 | 0.235 | N | 0.339 | 0.302 | 0.427139414373 | gnomAD-4.0.0 | 3.84376E-06 | None | None | None | None | N | None | 0 | 3.38937E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84463E-05 |
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 | 0.1131 | likely_benign | 0.1291 | benign | -0.702 | Destabilizing | 0.977 | D | 0.436 | neutral | N | 0.481998437 | None | None | N |
| T/C | 0.4222 | ambiguous | 0.4478 | ambiguous | -0.499 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| T/D | 0.6026 | likely_pathogenic | 0.6583 | pathogenic | 0.47 | Stabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/E | 0.4585 | ambiguous | 0.5141 | ambiguous | 0.468 | Stabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | N |
| T/F | 0.3798 | ambiguous | 0.4174 | ambiguous | -0.897 | Destabilizing | 0.995 | D | 0.756 | deleterious | None | None | None | None | N |
| T/G | 0.413 | ambiguous | 0.4683 | ambiguous | -0.927 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| T/H | 0.3236 | likely_benign | 0.3566 | ambiguous | -1.088 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| T/I | 0.1723 | likely_benign | 0.1921 | benign | -0.205 | Destabilizing | 0.235 | N | 0.339 | neutral | N | 0.479681032 | None | None | N |
| T/K | 0.2988 | likely_benign | 0.3513 | ambiguous | -0.357 | Destabilizing | 0.997 | D | 0.703 | prob.neutral | N | 0.508672814 | None | None | N |
| T/L | 0.1301 | likely_benign | 0.1489 | benign | -0.205 | Destabilizing | 0.966 | D | 0.517 | neutral | None | None | None | None | N |
| T/M | 0.1128 | likely_benign | 0.1176 | benign | -0.154 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/N | 0.1771 | likely_benign | 0.1989 | benign | -0.341 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | N |
| T/P | 0.2209 | likely_benign | 0.2865 | benign | -0.339 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | N | 0.477745703 | None | None | N |
| T/Q | 0.2585 | likely_benign | 0.2829 | benign | -0.445 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| T/R | 0.2384 | likely_benign | 0.2916 | benign | -0.181 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | N | 0.493204716 | None | None | N |
| T/S | 0.1373 | likely_benign | 0.1511 | benign | -0.694 | Destabilizing | 0.989 | D | 0.409 | neutral | N | 0.476224765 | None | None | N |
| T/V | 0.1331 | likely_benign | 0.1451 | benign | -0.339 | Destabilizing | 0.921 | D | 0.433 | neutral | None | None | None | None | N |
| T/W | 0.7786 | likely_pathogenic | 0.8124 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/Y | 0.4499 | ambiguous | 0.4951 | ambiguous | -0.567 | Destabilizing | 0.999 | D | 0.767 | deleterious | 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.