Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26952 | 81079;81080;81081 | chr2:178565278;178565277;178565276 | chr2:179430005;179430004;179430003 |
| N2AB | 25311 | 76156;76157;76158 | chr2:178565278;178565277;178565276 | chr2:179430005;179430004;179430003 |
| N2A | 24384 | 73375;73376;73377 | chr2:178565278;178565277;178565276 | chr2:179430005;179430004;179430003 |
| N2B | 17887 | 53884;53885;53886 | chr2:178565278;178565277;178565276 | chr2:179430005;179430004;179430003 |
| Novex-1 | 18012 | 54259;54260;54261 | chr2:178565278;178565277;178565276 | chr2:179430005;179430004;179430003 |
| Novex-2 | 18079 | 54460;54461;54462 | chr2:178565278;178565277;178565276 | chr2:179430005;179430004;179430003 |
| 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/I | rs371362606  |
-0.228 | 0.001 | N | 0.33 | 0.015 | None | gnomAD-2.1.1 | 7.15E-05 | None | None | None | None | N | None | 2.48098E-04 | 8.49E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 7.06E-05 | 1.40528E-04 |
| V/I | rs371362606 |
-0.228 | 0.001 | N | 0.33 | 0.015 | None | gnomAD-3.1.2 | 1.05212E-04 | None | None | None | None | N | None | 1.93115E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.17644E-04 | 0 | 0 |
| V/I | rs371362606 |
-0.228 | 0.001 | N | 0.33 | 0.015 | None | gnomAD-4.0.0 | 6.94099E-05 | None | None | None | None | N | None | 2.93302E-04 | 5.00133E-05 | None | 0 | 0 | None | 0 | 0 | 6.95112E-05 | 1.09803E-05 | 6.40348E-05 |
| V/L | rs371362606 |
-0.23 | None | N | 0.357 | 0.053 | 0.0482279557977 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/L | rs371362606 |
-0.23 | None | N | 0.357 | 0.053 | 0.0482279557977 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/L | rs371362606 |
-0.23 | None | N | 0.357 | 0.053 | 0.0482279557977 | gnomAD-4.0.0 | 1.92131E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54307E-05 | 0 | 1.60143E-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 | 0.5911 | likely_pathogenic | 0.5846 | pathogenic | -2.181 | Highly Destabilizing | 0.052 | N | 0.676 | prob.neutral | N | 0.467404041 | None | None | N |
| V/C | 0.8685 | likely_pathogenic | 0.8514 | pathogenic | -2.025 | Highly Destabilizing | 0.935 | D | 0.801 | deleterious | None | None | None | None | N |
| V/D | 0.9951 | likely_pathogenic | 0.9947 | pathogenic | -2.995 | Highly Destabilizing | 0.555 | D | 0.859 | deleterious | None | None | None | None | N |
| V/E | 0.986 | likely_pathogenic | 0.9857 | pathogenic | -2.736 | Highly Destabilizing | 0.484 | N | 0.838 | deleterious | N | 0.498803612 | None | None | N |
| V/F | 0.4383 | ambiguous | 0.4002 | ambiguous | -1.288 | Destabilizing | 0.38 | N | 0.809 | deleterious | None | None | None | None | N |
| V/G | 0.8401 | likely_pathogenic | 0.8433 | pathogenic | -2.774 | Highly Destabilizing | 0.484 | N | 0.833 | deleterious | N | 0.498550123 | None | None | N |
| V/H | 0.9911 | likely_pathogenic | 0.989 | pathogenic | -2.617 | Highly Destabilizing | 0.935 | D | 0.86 | deleterious | None | None | None | None | N |
| V/I | 0.0687 | likely_benign | 0.0673 | benign | -0.499 | Destabilizing | 0.001 | N | 0.33 | neutral | N | 0.420653106 | None | None | N |
| V/K | 0.9829 | likely_pathogenic | 0.9827 | pathogenic | -1.821 | Destabilizing | 0.555 | D | 0.837 | deleterious | None | None | None | None | N |
| V/L | 0.1857 | likely_benign | 0.1608 | benign | -0.499 | Destabilizing | None | N | 0.357 | neutral | N | 0.458555346 | None | None | N |
| V/M | 0.2571 | likely_benign | 0.2274 | benign | -0.741 | Destabilizing | 0.38 | N | 0.711 | prob.delet. | None | None | None | None | N |
| V/N | 0.9776 | likely_pathogenic | 0.9748 | pathogenic | -2.295 | Highly Destabilizing | 0.791 | D | 0.859 | deleterious | None | None | None | None | N |
| V/P | 0.9819 | likely_pathogenic | 0.9808 | pathogenic | -1.034 | Destabilizing | 0.791 | D | 0.845 | deleterious | None | None | None | None | N |
| V/Q | 0.9754 | likely_pathogenic | 0.9726 | pathogenic | -2.06 | Highly Destabilizing | 0.791 | D | 0.833 | deleterious | None | None | None | None | N |
| V/R | 0.9659 | likely_pathogenic | 0.9668 | pathogenic | -1.762 | Destabilizing | 0.555 | D | 0.859 | deleterious | None | None | None | None | N |
| V/S | 0.919 | likely_pathogenic | 0.9099 | pathogenic | -2.933 | Highly Destabilizing | 0.555 | D | 0.837 | deleterious | None | None | None | None | N |
| V/T | 0.8389 | likely_pathogenic | 0.8206 | pathogenic | -2.511 | Highly Destabilizing | 0.149 | N | 0.704 | prob.neutral | None | None | None | None | N |
| V/W | 0.9799 | likely_pathogenic | 0.9771 | pathogenic | -1.857 | Destabilizing | 0.935 | D | 0.857 | deleterious | None | None | None | None | N |
| V/Y | 0.9306 | likely_pathogenic | 0.9235 | pathogenic | -1.478 | Destabilizing | 0.555 | D | 0.811 | 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.