Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7872 | 23839;23840;23841 | chr2:178720028;178720027;178720026 | chr2:179584755;179584754;179584753 |
| N2AB | 7555 | 22888;22889;22890 | chr2:178720028;178720027;178720026 | chr2:179584755;179584754;179584753 |
| N2A | 6628 | 20107;20108;20109 | chr2:178720028;178720027;178720026 | chr2:179584755;179584754;179584753 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | None | None | 1.0 | D | 0.692 | 0.58 | 0.494433119893 | gnomAD-4.0.0 | 1.59291E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86138E-06 | 0 | 0 |
| N/K | rs181206334  |
-0.429 | 1.0 | D | 0.649 | 0.523 | 0.112648838833 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| N/K | rs181206334 |
-0.429 | 1.0 | D | 0.649 | 0.523 | 0.112648838833 | gnomAD-4.0.0 | 1.02683E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34971E-05 | 0 | 0 |
| N/S | rs746024262 |
-1.038 | 0.995 | N | 0.56 | 0.61 | 0.366085729538 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.59E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/S | rs746024262 |
-1.038 | 0.995 | N | 0.56 | 0.61 | 0.366085729538 | gnomAD-4.0.0 | 1.36909E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.5222E-05 | None | 0 | 0 | 0 | 1.16004E-05 | 0 |
| N/T | rs746024262 |
-0.722 | 0.993 | D | 0.604 | 0.593 | 0.49179695788 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/T | rs746024262 |
-0.722 | 0.993 | D | 0.604 | 0.593 | 0.49179695788 | gnomAD-4.0.0 | 3.42274E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.64016E-05 | 1.65777E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9982 | likely_pathogenic | 0.9964 | pathogenic | -0.694 | Destabilizing | 0.975 | D | 0.663 | neutral | None | None | None | None | I |
| N/C | 0.9943 | likely_pathogenic | 0.9926 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| N/D | 0.9713 | likely_pathogenic | 0.9588 | pathogenic | -1.298 | Destabilizing | 0.998 | D | 0.609 | neutral | D | 0.542713075 | None | None | I |
| N/E | 0.9981 | likely_pathogenic | 0.9969 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| N/F | 0.9998 | likely_pathogenic | 0.9995 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| N/G | 0.99 | likely_pathogenic | 0.9811 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.543 | neutral | None | None | None | None | I |
| N/H | 0.9904 | likely_pathogenic | 0.9839 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | D | 0.555501413 | None | None | I |
| N/I | 0.9976 | likely_pathogenic | 0.9956 | pathogenic | 0.093 | Stabilizing | 0.999 | D | 0.755 | deleterious | D | 0.555754902 | None | None | I |
| N/K | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.649 | neutral | D | 0.543473544 | None | None | I |
| N/L | 0.9951 | likely_pathogenic | 0.992 | pathogenic | 0.093 | Stabilizing | 0.996 | D | 0.712 | prob.delet. | None | None | None | None | I |
| N/M | 0.9949 | likely_pathogenic | 0.9922 | pathogenic | 0.609 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| N/P | 0.9993 | likely_pathogenic | 0.9985 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| N/Q | 0.999 | likely_pathogenic | 0.9982 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| N/R | 0.9989 | likely_pathogenic | 0.9981 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| N/S | 0.9205 | likely_pathogenic | 0.8778 | pathogenic | -0.875 | Destabilizing | 0.995 | D | 0.56 | neutral | N | 0.517011497 | None | None | I |
| N/T | 0.971 | likely_pathogenic | 0.9605 | pathogenic | -0.623 | Destabilizing | 0.993 | D | 0.604 | neutral | D | 0.536383199 | None | None | I |
| N/V | 0.9973 | likely_pathogenic | 0.995 | pathogenic | -0.14 | Destabilizing | 0.592 | D | 0.45 | neutral | None | None | None | None | I |
| N/W | 0.9998 | likely_pathogenic | 0.9995 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| N/Y | 0.9954 | likely_pathogenic | 0.9912 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.555501413 | None | None | I |
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.