Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18979 | 57160;57161;57162 | chr2:178598775;178598774;178598773 | chr2:179463502;179463501;179463500 |
| N2AB | 17338 | 52237;52238;52239 | chr2:178598775;178598774;178598773 | chr2:179463502;179463501;179463500 |
| N2A | 16411 | 49456;49457;49458 | chr2:178598775;178598774;178598773 | chr2:179463502;179463501;179463500 |
| N2B | 9914 | 29965;29966;29967 | chr2:178598775;178598774;178598773 | chr2:179463502;179463501;179463500 |
| Novex-1 | 10039 | 30340;30341;30342 | chr2:178598775;178598774;178598773 | chr2:179463502;179463501;179463500 |
| Novex-2 | 10106 | 30541;30542;30543 | chr2:178598775;178598774;178598773 | chr2:179463502;179463501;179463500 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs761214924  |
-0.097 | 0.999 | N | 0.51 | 0.194 | 0.136095386433 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| D/H | None | None | 1.0 | N | 0.713 | 0.335 | 0.311387274539 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2891 | likely_benign | 0.2945 | benign | -0.146 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.482765931 | None | None | N |
| D/C | 0.8121 | likely_pathogenic | 0.8089 | pathogenic | 0.11 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| D/E | 0.1601 | likely_benign | 0.1715 | benign | -0.216 | Destabilizing | 0.999 | D | 0.51 | neutral | N | 0.423525626 | None | None | N |
| D/F | 0.7121 | likely_pathogenic | 0.7144 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| D/G | 0.4196 | ambiguous | 0.4417 | ambiguous | -0.328 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.517571938 | None | None | N |
| D/H | 0.544 | ambiguous | 0.5287 | ambiguous | -0.036 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.488340042 | None | None | N |
| D/I | 0.403 | ambiguous | 0.3949 | ambiguous | 0.277 | Stabilizing | 1.0 | D | 0.701 | prob.delet. | None | None | None | None | N |
| D/K | 0.5723 | likely_pathogenic | 0.5718 | pathogenic | 0.337 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| D/L | 0.4452 | ambiguous | 0.4321 | ambiguous | 0.277 | Stabilizing | 1.0 | D | 0.727 | deleterious | None | None | None | None | N |
| D/M | 0.6783 | likely_pathogenic | 0.6679 | pathogenic | 0.368 | Stabilizing | 1.0 | D | 0.705 | prob.delet. | None | None | None | None | N |
| D/N | 0.1797 | likely_benign | 0.1948 | benign | 0.164 | Stabilizing | 1.0 | D | 0.749 | deleterious | N | 0.509683173 | None | None | N |
| D/P | 0.61 | likely_pathogenic | 0.6336 | pathogenic | 0.158 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| D/Q | 0.5032 | ambiguous | 0.4826 | ambiguous | 0.182 | Stabilizing | 1.0 | D | 0.707 | prob.delet. | None | None | None | None | N |
| D/R | 0.6779 | likely_pathogenic | 0.656 | pathogenic | 0.47 | Stabilizing | 1.0 | D | 0.707 | prob.delet. | None | None | None | None | N |
| D/S | 0.2223 | likely_benign | 0.2252 | benign | 0.033 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/T | 0.3833 | ambiguous | 0.3946 | ambiguous | 0.168 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/V | 0.2716 | likely_benign | 0.2657 | benign | 0.158 | Stabilizing | 1.0 | D | 0.727 | deleterious | N | 0.462282842 | None | None | N |
| D/W | 0.9527 | likely_pathogenic | 0.9439 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/Y | 0.4172 | ambiguous | 0.3748 | ambiguous | 0.039 | Stabilizing | 1.0 | D | 0.726 | deleterious | N | 0.482806633 | 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.