Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31109 | 93550;93551;93552 | chr2:178548301;178548300;178548299 | chr2:179413028;179413027;179413026 |
| N2AB | 29468 | 88627;88628;88629 | chr2:178548301;178548300;178548299 | chr2:179413028;179413027;179413026 |
| N2A | 28541 | 85846;85847;85848 | chr2:178548301;178548300;178548299 | chr2:179413028;179413027;179413026 |
| N2B | 22044 | 66355;66356;66357 | chr2:178548301;178548300;178548299 | chr2:179413028;179413027;179413026 |
| Novex-1 | 22169 | 66730;66731;66732 | chr2:178548301;178548300;178548299 | chr2:179413028;179413027;179413026 |
| Novex-2 | 22236 | 66931;66932;66933 | chr2:178548301;178548300;178548299 | chr2:179413028;179413027;179413026 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs755487582  |
-1.186 | 0.682 | N | 0.477 | 0.259 | 0.368369118721 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs755487582 |
-1.186 | 0.682 | N | 0.477 | 0.259 | 0.368369118721 | gnomAD-4.0.0 | 2.05254E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.82673E-05 | 0 | None | 0 | 0 | 8.99442E-07 | 0 | 1.65651E-05 |
| V/I | None | None | 0.028 | N | 0.221 | 0.038 | 0.183819452728 | gnomAD-4.0.0 | 1.36911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73491E-04 | 0 | 0 | 1.65848E-05 |
| V/L | rs781180489 |
-0.196 | 0.007 | N | 0.341 | 0.056 | 0.112648838833 | gnomAD-4.0.0 | 1.88296E-04 | None | None | None | None | N | None | 5.97586E-05 | 2.23634E-05 | None | 0 | 0 | None | 4.0779E-03 | 0 | 2.15887E-05 | 0 | 5.64166E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2251 | likely_benign | 0.2215 | benign | -0.889 | Destabilizing | 0.682 | D | 0.477 | neutral | N | 0.460006501 | None | None | N |
| V/C | 0.7464 | likely_pathogenic | 0.7399 | pathogenic | -0.781 | Destabilizing | 0.996 | D | 0.708 | prob.delet. | None | None | None | None | N |
| V/D | 0.7104 | likely_pathogenic | 0.662 | pathogenic | -0.515 | Destabilizing | 0.984 | D | 0.819 | deleterious | None | None | None | None | N |
| V/E | 0.5257 | ambiguous | 0.4839 | ambiguous | -0.57 | Destabilizing | 0.938 | D | 0.804 | deleterious | N | 0.468972701 | None | None | N |
| V/F | 0.2211 | likely_benign | 0.2076 | benign | -0.769 | Destabilizing | 0.833 | D | 0.703 | prob.delet. | None | None | None | None | N |
| V/G | 0.402 | ambiguous | 0.374 | ambiguous | -1.115 | Destabilizing | 0.938 | D | 0.779 | deleterious | N | 0.463438612 | None | None | N |
| V/H | 0.665 | likely_pathogenic | 0.6264 | pathogenic | -0.606 | Destabilizing | 0.996 | D | 0.809 | deleterious | None | None | None | None | N |
| V/I | 0.0707 | likely_benign | 0.075 | benign | -0.408 | Destabilizing | 0.028 | N | 0.221 | neutral | N | 0.427144721 | None | None | N |
| V/K | 0.4898 | ambiguous | 0.3852 | ambiguous | -0.816 | Destabilizing | 0.953 | D | 0.811 | deleterious | None | None | None | None | N |
| V/L | 0.1594 | likely_benign | 0.1565 | benign | -0.408 | Destabilizing | 0.007 | N | 0.341 | neutral | N | 0.39547502 | None | None | N |
| V/M | 0.1346 | likely_benign | 0.1402 | benign | -0.423 | Destabilizing | 0.909 | D | 0.663 | prob.neutral | None | None | None | None | N |
| V/N | 0.4388 | ambiguous | 0.4345 | ambiguous | -0.639 | Destabilizing | 0.984 | D | 0.833 | deleterious | None | None | None | None | N |
| V/P | 0.7303 | likely_pathogenic | 0.6591 | pathogenic | -0.532 | Destabilizing | 0.984 | D | 0.808 | deleterious | None | None | None | None | N |
| V/Q | 0.4168 | ambiguous | 0.3845 | ambiguous | -0.818 | Destabilizing | 0.984 | D | 0.808 | deleterious | None | None | None | None | N |
| V/R | 0.4249 | ambiguous | 0.3225 | benign | -0.301 | Destabilizing | 0.953 | D | 0.829 | deleterious | None | None | None | None | N |
| V/S | 0.3046 | likely_benign | 0.3028 | benign | -1.083 | Destabilizing | 0.953 | D | 0.753 | deleterious | None | None | None | None | N |
| V/T | 0.1723 | likely_benign | 0.1662 | benign | -1.029 | Destabilizing | 0.74 | D | 0.603 | neutral | None | None | None | None | N |
| V/W | 0.8467 | likely_pathogenic | 0.8167 | pathogenic | -0.897 | Destabilizing | 0.996 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/Y | 0.6402 | likely_pathogenic | 0.5877 | pathogenic | -0.605 | Destabilizing | 0.953 | D | 0.688 | prob.delet. | 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.