Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31720 | 95383;95384;95385 | chr2:178546078;178546077;178546076 | chr2:179410805;179410804;179410803 |
| N2AB | 30079 | 90460;90461;90462 | chr2:178546078;178546077;178546076 | chr2:179410805;179410804;179410803 |
| N2A | 29152 | 87679;87680;87681 | chr2:178546078;178546077;178546076 | chr2:179410805;179410804;179410803 |
| N2B | 22655 | 68188;68189;68190 | chr2:178546078;178546077;178546076 | chr2:179410805;179410804;179410803 |
| Novex-1 | 22780 | 68563;68564;68565 | chr2:178546078;178546077;178546076 | chr2:179410805;179410804;179410803 |
| Novex-2 | 22847 | 68764;68765;68766 | chr2:178546078;178546077;178546076 | chr2:179410805;179410804;179410803 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.334 | N | 0.487 | 0.386 | 0.596957824077 | gnomAD-4.0.0 | 1.59454E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0281E-05 |
| V/E | rs1696965426  |
None | 0.781 | N | 0.646 | 0.575 | 0.674931257369 | 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 |
| V/E | rs1696965426 |
None | 0.781 | N | 0.646 | 0.575 | 0.674931257369 | gnomAD-4.0.0 | 6.57428E-06 | None | None | None | None | N | None | 2.41441E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1575443877 |
None | 0.002 | N | 0.213 | 0.072 | 0.270447802918 | gnomAD-4.0.0 | 1.59457E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02737E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5476 | ambiguous | 0.5615 | ambiguous | -1.198 | Destabilizing | 0.334 | N | 0.487 | neutral | N | 0.484792686 | None | None | N |
| V/C | 0.8556 | likely_pathogenic | 0.839 | pathogenic | -1.143 | Destabilizing | 0.982 | D | 0.561 | neutral | None | None | None | None | N |
| V/D | 0.8875 | likely_pathogenic | 0.9061 | pathogenic | -0.975 | Destabilizing | 0.826 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/E | 0.7342 | likely_pathogenic | 0.7694 | pathogenic | -1.017 | Destabilizing | 0.781 | D | 0.646 | neutral | N | 0.517140082 | None | None | N |
| V/F | 0.4809 | ambiguous | 0.5026 | ambiguous | -1.237 | Destabilizing | 0.7 | D | 0.568 | neutral | None | None | None | None | N |
| V/G | 0.6356 | likely_pathogenic | 0.6525 | pathogenic | -1.437 | Destabilizing | 0.781 | D | 0.695 | prob.neutral | N | 0.521623534 | None | None | N |
| V/H | 0.9068 | likely_pathogenic | 0.9132 | pathogenic | -1.046 | Destabilizing | 0.982 | D | 0.706 | prob.neutral | None | None | None | None | N |
| V/I | 0.0713 | likely_benign | 0.0734 | benign | -0.664 | Destabilizing | 0.002 | N | 0.213 | neutral | N | 0.479635199 | None | None | N |
| V/K | 0.7268 | likely_pathogenic | 0.7571 | pathogenic | -0.842 | Destabilizing | 0.826 | D | 0.628 | neutral | None | None | None | None | N |
| V/L | 0.3513 | ambiguous | 0.3723 | ambiguous | -0.664 | Destabilizing | 0.034 | N | 0.339 | neutral | N | 0.508035309 | None | None | N |
| V/M | 0.256 | likely_benign | 0.2729 | benign | -0.577 | Destabilizing | 0.121 | N | 0.347 | neutral | None | None | None | None | N |
| V/N | 0.7303 | likely_pathogenic | 0.7516 | pathogenic | -0.655 | Destabilizing | 0.935 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/P | 0.8171 | likely_pathogenic | 0.8431 | pathogenic | -0.808 | Destabilizing | 0.935 | D | 0.649 | neutral | None | None | None | None | N |
| V/Q | 0.7137 | likely_pathogenic | 0.7259 | pathogenic | -0.899 | Destabilizing | 0.826 | D | 0.656 | neutral | None | None | None | None | N |
| V/R | 0.7445 | likely_pathogenic | 0.7669 | pathogenic | -0.403 | Destabilizing | 0.826 | D | 0.73 | prob.delet. | None | None | None | None | N |
| V/S | 0.6932 | likely_pathogenic | 0.6999 | pathogenic | -1.177 | Destabilizing | 0.826 | D | 0.571 | neutral | None | None | None | None | N |
| V/T | 0.4929 | ambiguous | 0.4986 | ambiguous | -1.113 | Destabilizing | 0.399 | N | 0.45 | neutral | None | None | None | None | N |
| V/W | 0.9579 | likely_pathogenic | 0.9608 | pathogenic | -1.333 | Destabilizing | 0.982 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/Y | 0.8479 | likely_pathogenic | 0.8538 | pathogenic | -1.0 | Destabilizing | 0.826 | D | 0.573 | 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.