Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23070 | 69433;69434;69435 | chr2:178577127;178577126;178577125 | chr2:179441854;179441853;179441852 |
| N2AB | 21429 | 64510;64511;64512 | chr2:178577127;178577126;178577125 | chr2:179441854;179441853;179441852 |
| N2A | 20502 | 61729;61730;61731 | chr2:178577127;178577126;178577125 | chr2:179441854;179441853;179441852 |
| N2B | 14005 | 42238;42239;42240 | chr2:178577127;178577126;178577125 | chr2:179441854;179441853;179441852 |
| Novex-1 | 14130 | 42613;42614;42615 | chr2:178577127;178577126;178577125 | chr2:179441854;179441853;179441852 |
| Novex-2 | 14197 | 42814;42815;42816 | chr2:178577127;178577126;178577125 | chr2:179441854;179441853;179441852 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | None | None | 0.925 | N | 0.609 | 0.267 | 0.559923220125 | gnomAD-4.0.0 | 1.59235E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 0 |
| S/P | None | None | 0.998 | D | 0.662 | 0.424 | 0.307016933798 | gnomAD-4.0.0 | 3.18467E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 3.02608E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1549 | likely_benign | 0.1413 | benign | -0.773 | Destabilizing | 0.91 | D | 0.572 | neutral | N | 0.454566183 | None | None | I |
| S/C | 0.1245 | likely_benign | 0.1023 | benign | -0.478 | Destabilizing | 0.092 | N | 0.455 | neutral | None | None | None | None | I |
| S/D | 0.8661 | likely_pathogenic | 0.7262 | pathogenic | -0.39 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | I |
| S/E | 0.9277 | likely_pathogenic | 0.8682 | pathogenic | -0.387 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | I |
| S/F | 0.4446 | ambiguous | 0.3346 | benign | -0.951 | Destabilizing | 0.191 | N | 0.519 | neutral | None | None | None | None | I |
| S/G | 0.294 | likely_benign | 0.2579 | benign | -1.03 | Destabilizing | 0.985 | D | 0.592 | neutral | None | None | None | None | I |
| S/H | 0.6456 | likely_pathogenic | 0.5163 | ambiguous | -1.549 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| S/I | 0.6288 | likely_pathogenic | 0.5283 | ambiguous | -0.193 | Destabilizing | 0.991 | D | 0.687 | prob.neutral | None | None | None | None | I |
| S/K | 0.9782 | likely_pathogenic | 0.9532 | pathogenic | -0.773 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | I |
| S/L | 0.2719 | likely_benign | 0.2069 | benign | -0.193 | Destabilizing | 0.925 | D | 0.609 | neutral | N | 0.490869072 | None | None | I |
| S/M | 0.4203 | ambiguous | 0.352 | ambiguous | 0.144 | Stabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | I |
| S/N | 0.4936 | ambiguous | 0.3443 | ambiguous | -0.75 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | I |
| S/P | 0.9927 | likely_pathogenic | 0.993 | pathogenic | -0.352 | Destabilizing | 0.998 | D | 0.662 | neutral | D | 0.530876244 | None | None | I |
| S/Q | 0.8509 | likely_pathogenic | 0.7791 | pathogenic | -0.885 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | I |
| S/R | 0.967 | likely_pathogenic | 0.9345 | pathogenic | -0.693 | Destabilizing | 0.999 | D | 0.658 | neutral | None | None | None | None | I |
| S/T | 0.3009 | likely_benign | 0.2335 | benign | -0.734 | Destabilizing | 0.98 | D | 0.625 | neutral | N | 0.470687676 | None | None | I |
| S/V | 0.5545 | ambiguous | 0.4607 | ambiguous | -0.352 | Destabilizing | 0.97 | D | 0.663 | neutral | None | None | None | None | I |
| S/W | 0.6901 | likely_pathogenic | 0.6181 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| S/Y | 0.4313 | ambiguous | 0.3218 | benign | -0.681 | Destabilizing | 0.983 | D | 0.7 | prob.neutral | None | None | 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.