Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9773 | 29542;29543;29544 | chr2:178706557;178706556;178706555 | chr2:179571284;179571283;179571282 |
| N2AB | 9456 | 28591;28592;28593 | chr2:178706557;178706556;178706555 | chr2:179571284;179571283;179571282 |
| N2A | 8529 | 25810;25811;25812 | chr2:178706557;178706556;178706555 | chr2:179571284;179571283;179571282 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 1.0 | None | 0.567 | 0.557 | 0.548358248517 | gnomAD-4.0.0 | 6.84166E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99425E-07 | 0 | 0 |
| A/T | rs371163094  |
-1.294 | 1.0 | None | 0.77 | 0.583 | None | gnomAD-2.1.1 | 8.55E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79156E-04 | 1.40056E-04 |
| A/T | rs371163094 |
-1.294 | 1.0 | None | 0.77 | 0.583 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.61717E-04 | 0 | 4.78469E-04 |
| A/T | rs371163094 |
-1.294 | 1.0 | None | 0.77 | 0.583 | None | gnomAD-4.0.0 | 3.01159E-04 | None | None | None | None | N | None | 4.00481E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.03444E-04 | 0 | 1.12065E-04 |
| A/V | None | None | 1.0 | None | 0.644 | 0.49 | 0.676562671139 | gnomAD-4.0.0 | 2.73667E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5977E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9381 | likely_pathogenic | 0.929 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/D | 0.999 | likely_pathogenic | 0.9978 | pathogenic | -2.58 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/E | 0.9984 | likely_pathogenic | 0.9964 | pathogenic | -2.32 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/F | 0.9845 | likely_pathogenic | 0.9741 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/G | 0.6669 | likely_pathogenic | 0.5735 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.567 | neutral | None | None | None | None | N |
| A/H | 0.9988 | likely_pathogenic | 0.9977 | pathogenic | -2.224 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/I | 0.9396 | likely_pathogenic | 0.8771 | pathogenic | 0.201 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/K | 0.9994 | likely_pathogenic | 0.9987 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/L | 0.8817 | likely_pathogenic | 0.7971 | pathogenic | 0.201 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/M | 0.9779 | likely_pathogenic | 0.9527 | pathogenic | 0.005 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/N | 0.998 | likely_pathogenic | 0.9959 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/P | 0.9925 | likely_pathogenic | 0.9849 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/Q | 0.9967 | likely_pathogenic | 0.9934 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/R | 0.9952 | likely_pathogenic | 0.9904 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/S | 0.6958 | likely_pathogenic | 0.6115 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.567 | neutral | None | None | None | None | N |
| A/T | 0.9138 | likely_pathogenic | 0.8356 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| A/V | 0.8227 | likely_pathogenic | 0.6851 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| A/W | 0.9993 | likely_pathogenic | 0.9984 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/Y | 0.9964 | likely_pathogenic | 0.9933 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.875 | 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.