Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8606 | 26041;26042;26043 | chr2:178715598;178715597;178715596 | chr2:179580325;179580324;179580323 |
| N2AB | 8289 | 25090;25091;25092 | chr2:178715598;178715597;178715596 | chr2:179580325;179580324;179580323 |
| N2A | 7362 | 22309;22310;22311 | chr2:178715598;178715597;178715596 | chr2:179580325;179580324;179580323 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | rs747173071  |
-2.934 | 0.91 | N | 0.714 | 0.362 | 0.851354784354 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/G | rs747173071 |
-2.934 | 0.91 | N | 0.714 | 0.362 | 0.851354784354 | gnomAD-4.0.0 | 1.59157E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| V/L | None | None | 0.005 | N | 0.49 | 0.099 | 0.366466682447 | gnomAD-4.0.0 | 6.84269E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99544E-07 | 0 | 0 |
| V/M | rs1453874617 |
-0.724 | 0.664 | N | 0.647 | 0.308 | 0.490419987736 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs1453874617 |
-0.724 | 0.664 | N | 0.647 | 0.308 | 0.490419987736 | gnomAD-4.0.0 | 6.84269E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51965E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2271 | likely_benign | 0.2099 | benign | -2.085 | Highly Destabilizing | 0.149 | N | 0.555 | neutral | D | 0.524245273 | None | None | N |
| V/C | 0.7159 | likely_pathogenic | 0.6883 | pathogenic | -1.66 | Destabilizing | 0.979 | D | 0.663 | neutral | None | None | None | None | N |
| V/D | 0.4908 | ambiguous | 0.4673 | ambiguous | -2.861 | Highly Destabilizing | 0.908 | D | 0.738 | prob.delet. | None | None | None | None | N |
| V/E | 0.298 | likely_benign | 0.3023 | benign | -2.699 | Highly Destabilizing | 0.546 | D | 0.679 | prob.neutral | D | 0.524629275 | None | None | N |
| V/F | 0.1153 | likely_benign | 0.1122 | benign | -1.287 | Destabilizing | 0.785 | D | 0.645 | neutral | None | None | None | None | N |
| V/G | 0.3193 | likely_benign | 0.3132 | benign | -2.56 | Highly Destabilizing | 0.91 | D | 0.714 | prob.delet. | N | 0.483224021 | None | None | N |
| V/H | 0.474 | ambiguous | 0.4414 | ambiguous | -2.26 | Highly Destabilizing | 0.984 | D | 0.765 | deleterious | None | None | None | None | N |
| V/I | 0.0695 | likely_benign | 0.0638 | benign | -0.78 | Destabilizing | None | N | 0.363 | neutral | None | None | None | None | N |
| V/K | 0.3414 | ambiguous | 0.3222 | benign | -1.746 | Destabilizing | 0.777 | D | 0.692 | prob.neutral | None | None | None | None | N |
| V/L | 0.1374 | likely_benign | 0.1237 | benign | -0.78 | Destabilizing | 0.005 | N | 0.49 | neutral | N | 0.494962516 | None | None | N |
| V/M | 0.0983 | likely_benign | 0.0936 | benign | -0.82 | Destabilizing | 0.664 | D | 0.647 | neutral | N | 0.504228338 | None | None | N |
| V/N | 0.3099 | likely_benign | 0.2592 | benign | -1.955 | Destabilizing | 0.341 | N | 0.761 | deleterious | None | None | None | None | N |
| V/P | 0.9657 | likely_pathogenic | 0.9494 | pathogenic | -1.188 | Destabilizing | 0.611 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/Q | 0.2869 | likely_benign | 0.2749 | benign | -1.908 | Destabilizing | 0.883 | D | 0.71 | prob.delet. | None | None | None | None | N |
| V/R | 0.294 | likely_benign | 0.2698 | benign | -1.426 | Destabilizing | 0.881 | D | 0.78 | deleterious | None | None | None | None | N |
| V/S | 0.2178 | likely_benign | 0.1953 | benign | -2.501 | Highly Destabilizing | 0.497 | N | 0.671 | neutral | None | None | None | None | N |
| V/T | 0.1674 | likely_benign | 0.1573 | benign | -2.217 | Highly Destabilizing | 0.003 | N | 0.45 | neutral | None | None | None | None | N |
| V/W | 0.6758 | likely_pathogenic | 0.6695 | pathogenic | -1.79 | Destabilizing | 0.996 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/Y | 0.4237 | ambiguous | 0.3956 | ambiguous | -1.441 | Destabilizing | 0.881 | D | 0.662 | 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.