Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14055 | 42388;42389;42390 | chr2:178634618;178634617;178634616 | chr2:179499345;179499344;179499343 |
| N2AB | 12414 | 37465;37466;37467 | chr2:178634618;178634617;178634616 | chr2:179499345;179499344;179499343 |
| N2A | 11487 | 34684;34685;34686 | chr2:178634618;178634617;178634616 | chr2:179499345;179499344;179499343 |
| N2B | 4990 | 15193;15194;15195 | chr2:178634618;178634617;178634616 | chr2:179499345;179499344;179499343 |
| Novex-1 | 5115 | 15568;15569;15570 | chr2:178634618;178634617;178634616 | chr2:179499345;179499344;179499343 |
| Novex-2 | 5182 | 15769;15770;15771 | chr2:178634618;178634617;178634616 | chr2:179499345;179499344;179499343 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | None | None | 0.996 | N | 0.667 | 0.321 | 0.589843679045 | gnomAD-4.0.0 | 1.593E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77531E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | None | None | 0.999 | N | 0.561 | 0.222 | 0.27132560031 | gnomAD-4.0.0 | 6.84496E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99693E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5689 | likely_pathogenic | 0.5262 | ambiguous | -0.039 | Destabilizing | 0.996 | D | 0.667 | neutral | N | 0.506933316 | None | None | N |
| D/C | 0.9622 | likely_pathogenic | 0.9504 | pathogenic | -0.043 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/E | 0.6033 | likely_pathogenic | 0.5527 | ambiguous | -0.335 | Destabilizing | 0.999 | D | 0.561 | neutral | N | 0.46093622 | None | None | N |
| D/F | 0.9644 | likely_pathogenic | 0.9578 | pathogenic | 0.541 | Stabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| D/G | 0.4922 | ambiguous | 0.4491 | ambiguous | -0.353 | Destabilizing | 0.434 | N | 0.415 | neutral | N | 0.506495901 | None | None | N |
| D/H | 0.8514 | likely_pathogenic | 0.8255 | pathogenic | 0.678 | Stabilizing | 1.0 | D | 0.755 | deleterious | N | 0.509214071 | None | None | N |
| D/I | 0.9311 | likely_pathogenic | 0.9091 | pathogenic | 0.771 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/K | 0.9318 | likely_pathogenic | 0.9168 | pathogenic | 0.424 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/L | 0.8792 | likely_pathogenic | 0.8585 | pathogenic | 0.771 | Stabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| D/M | 0.9707 | likely_pathogenic | 0.9621 | pathogenic | 0.772 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| D/N | 0.3738 | ambiguous | 0.3504 | ambiguous | -0.318 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | N | 0.503876907 | None | None | N |
| D/P | 0.9827 | likely_pathogenic | 0.9837 | pathogenic | 0.527 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| D/Q | 0.8731 | likely_pathogenic | 0.8545 | pathogenic | -0.157 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/R | 0.9092 | likely_pathogenic | 0.8936 | pathogenic | 0.703 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/S | 0.4261 | ambiguous | 0.3986 | ambiguous | -0.426 | Destabilizing | 0.997 | D | 0.682 | prob.neutral | None | None | None | None | N |
| D/T | 0.7772 | likely_pathogenic | 0.7376 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| D/V | 0.8009 | likely_pathogenic | 0.7578 | pathogenic | 0.527 | Stabilizing | 1.0 | D | 0.801 | deleterious | N | 0.503323285 | None | None | N |
| D/W | 0.9935 | likely_pathogenic | 0.9923 | pathogenic | 0.767 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/Y | 0.7927 | likely_pathogenic | 0.7555 | pathogenic | 0.837 | Stabilizing | 1.0 | D | 0.791 | deleterious | N | 0.50574142 | 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.