Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8626 | 26101;26102;26103 | chr2:178715538;178715537;178715536 | chr2:179580265;179580264;179580263 |
| N2AB | 8309 | 25150;25151;25152 | chr2:178715538;178715537;178715536 | chr2:179580265;179580264;179580263 |
| N2A | 7382 | 22369;22370;22371 | chr2:178715538;178715537;178715536 | chr2:179580265;179580264;179580263 |
| 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/D | rs2077357318  |
None | 0.996 | D | 0.624 | 0.576 | 0.377274123778 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/D | rs2077357318 |
None | 0.996 | D | 0.624 | 0.576 | 0.377274123778 | gnomAD-4.0.0 | 6.57177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 0 |
| N/S | rs200355367 |
-0.897 | 0.996 | N | 0.591 | 0.485 | None | gnomAD-2.1.1 | 1.21503E-04 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.5826E-04 | 0 |
| N/S | rs200355367 |
-0.897 | 0.996 | N | 0.591 | 0.485 | None | gnomAD-3.1.2 | 1.70882E-04 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 3.23463E-04 | 2.07641E-04 | 4.77555E-04 |
| N/S | rs200355367 |
-0.897 | 0.996 | N | 0.591 | 0.485 | None | gnomAD-4.0.0 | 3.26633E-04 | None | None | None | None | N | None | 4.00588E-05 | 0 | None | 0 | 6.6839E-05 | None | 0 | 0 | 4.17945E-04 | 4.39261E-05 | 3.84418E-04 |
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 | 0.9785 | likely_pathogenic | 0.9659 | pathogenic | -0.654 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| N/C | 0.9248 | likely_pathogenic | 0.9026 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| N/D | 0.9505 | likely_pathogenic | 0.939 | pathogenic | -1.421 | Destabilizing | 0.996 | D | 0.624 | neutral | D | 0.556373559 | None | None | N |
| N/E | 0.9959 | likely_pathogenic | 0.9948 | pathogenic | -1.312 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| N/F | 0.9973 | likely_pathogenic | 0.9966 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/G | 0.9443 | likely_pathogenic | 0.9187 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.566 | neutral | None | None | None | None | N |
| N/H | 0.8963 | likely_pathogenic | 0.874 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.557641006 | None | None | N |
| N/I | 0.9796 | likely_pathogenic | 0.9718 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.557894496 | None | None | N |
| N/K | 0.995 | likely_pathogenic | 0.9934 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.557134027 | None | None | N |
| N/L | 0.9596 | likely_pathogenic | 0.9481 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| N/M | 0.9828 | likely_pathogenic | 0.9781 | pathogenic | 0.704 | Stabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| N/P | 0.9909 | likely_pathogenic | 0.9879 | pathogenic | -0.047 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9929 | likely_pathogenic | 0.9906 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| N/R | 0.9919 | likely_pathogenic | 0.9904 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| N/S | 0.4105 | ambiguous | 0.3313 | benign | -0.956 | Destabilizing | 0.996 | D | 0.591 | neutral | N | 0.48969053 | None | None | N |
| N/T | 0.7931 | likely_pathogenic | 0.7614 | pathogenic | -0.677 | Destabilizing | 0.998 | D | 0.707 | prob.neutral | D | 0.533749853 | None | None | N |
| N/V | 0.973 | likely_pathogenic | 0.9626 | pathogenic | -0.047 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| N/W | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| N/Y | 0.9817 | likely_pathogenic | 0.9738 | pathogenic | -0.05 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.557641006 | 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.