Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8979 | 27160;27161;27162 | chr2:178713199;178713198;178713197 | chr2:179577926;179577925;179577924 |
| N2AB | 8662 | 26209;26210;26211 | chr2:178713199;178713198;178713197 | chr2:179577926;179577925;179577924 |
| N2A | 7735 | 23428;23429;23430 | chr2:178713199;178713198;178713197 | chr2:179577926;179577925;179577924 |
| 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 | rs376982715  |
-0.998 | 0.999 | N | 0.681 | 0.287 | None | gnomAD-2.1.1 | 1.35664E-04 | None | None | None | None | N | None | 4.14E-05 | 5.67E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.73181E-04 | 0 |
| N/H | rs376982715 |
-0.998 | 0.999 | N | 0.681 | 0.287 | None | gnomAD-3.1.2 | 1.7744E-04 | None | None | None | None | N | None | 4.82E-05 | 1.96618E-04 | 0 | 0 | 0 | None | 0 | 0 | 3.08705E-04 | 0 | 4.78011E-04 |
| N/H | rs376982715 |
-0.998 | 0.999 | N | 0.681 | 0.287 | None | gnomAD-4.0.0 | 3.3091E-04 | None | None | None | None | N | None | 2.66482E-05 | 1.33387E-04 | None | 0 | 0 | None | 0 | 0 | 4.35684E-04 | 0 | 1.60056E-04 |
| N/S | rs749174522 |
-0.627 | 0.978 | N | 0.541 | 0.259 | 0.241078983079 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| N/S | rs749174522 |
-0.627 | 0.978 | N | 0.541 | 0.259 | 0.241078983079 | gnomAD-4.0.0 | 1.36852E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99504E-07 | 0 | 1.65667E-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 | 0.5539 | ambiguous | 0.604 | pathogenic | -0.878 | Destabilizing | 0.992 | D | 0.673 | neutral | None | None | None | None | N |
| N/C | 0.5774 | likely_pathogenic | 0.6311 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/D | 0.2613 | likely_benign | 0.3026 | benign | -0.44 | Destabilizing | 0.054 | N | 0.229 | neutral | N | 0.436511645 | None | None | N |
| N/E | 0.7331 | likely_pathogenic | 0.7898 | pathogenic | -0.358 | Destabilizing | 0.967 | D | 0.545 | neutral | None | None | None | None | N |
| N/F | 0.7664 | likely_pathogenic | 0.7913 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| N/G | 0.4158 | ambiguous | 0.4214 | ambiguous | -1.204 | Destabilizing | 0.983 | D | 0.521 | neutral | None | None | None | None | N |
| N/H | 0.182 | likely_benign | 0.2169 | benign | -1.017 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | N | 0.512318913 | None | None | N |
| N/I | 0.6078 | likely_pathogenic | 0.6693 | pathogenic | -0.055 | Destabilizing | 0.999 | D | 0.783 | deleterious | D | 0.535387773 | None | None | N |
| N/K | 0.5814 | likely_pathogenic | 0.6848 | pathogenic | -0.239 | Destabilizing | 0.978 | D | 0.605 | neutral | N | 0.472336372 | None | None | N |
| N/L | 0.5598 | ambiguous | 0.591 | pathogenic | -0.055 | Destabilizing | 0.998 | D | 0.773 | deleterious | None | None | None | None | N |
| N/M | 0.6105 | likely_pathogenic | 0.6827 | pathogenic | 0.45 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| N/P | 0.931 | likely_pathogenic | 0.9388 | pathogenic | -0.299 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| N/Q | 0.5789 | likely_pathogenic | 0.6463 | pathogenic | -0.834 | Destabilizing | 0.998 | D | 0.701 | prob.neutral | None | None | None | None | N |
| N/R | 0.5785 | likely_pathogenic | 0.6407 | pathogenic | -0.279 | Destabilizing | 0.998 | D | 0.698 | prob.neutral | None | None | None | None | N |
| N/S | 0.1242 | likely_benign | 0.1337 | benign | -0.84 | Destabilizing | 0.978 | D | 0.541 | neutral | N | 0.450422305 | None | None | N |
| N/T | 0.3174 | likely_benign | 0.3761 | ambiguous | -0.563 | Destabilizing | 0.989 | D | 0.6 | neutral | N | 0.460081938 | None | None | N |
| N/V | 0.6335 | likely_pathogenic | 0.6914 | pathogenic | -0.299 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| N/W | 0.9196 | likely_pathogenic | 0.9387 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| N/Y | 0.2977 | likely_benign | 0.3348 | benign | -0.301 | Destabilizing | 0.999 | D | 0.762 | deleterious | N | 0.512318913 | 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.