Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20100 | 60523;60524;60525 | chr2:178591427;178591426;178591425 | chr2:179456154;179456153;179456152 |
| N2AB | 18459 | 55600;55601;55602 | chr2:178591427;178591426;178591425 | chr2:179456154;179456153;179456152 |
| N2A | 17532 | 52819;52820;52821 | chr2:178591427;178591426;178591425 | chr2:179456154;179456153;179456152 |
| N2B | 11035 | 33328;33329;33330 | chr2:178591427;178591426;178591425 | chr2:179456154;179456153;179456152 |
| Novex-1 | 11160 | 33703;33704;33705 | chr2:178591427;178591426;178591425 | chr2:179456154;179456153;179456152 |
| Novex-2 | 11227 | 33904;33905;33906 | chr2:178591427;178591426;178591425 | chr2:179456154;179456153;179456152 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs748929812  |
-0.554 | 1.0 | N | 0.872 | 0.432 | 0.336155897331 | gnomAD-2.1.1 | 3.31E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.10069E-04 | None | 0 | 1.82E-05 | 0 |
| A/T | rs748929812 |
-0.554 | 1.0 | N | 0.872 | 0.432 | 0.336155897331 | gnomAD-4.0.0 | 1.85614E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.23743E-04 | 9.01884E-06 | 9.43908E-05 | 9.98768E-05 |
| A/V | rs1388164549 |
1.128 | 1.0 | N | 0.757 | 0.425 | 0.305410167561 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.08E-06 | 0 |
| A/V | rs1388164549 |
1.128 | 1.0 | N | 0.757 | 0.425 | 0.305410167561 | gnomAD-4.0.0 | 4.82417E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.64469E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6745 | likely_pathogenic | 0.7349 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/D | 0.9969 | likely_pathogenic | 0.9976 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.909 | deleterious | N | 0.498777159 | None | None | N |
| A/E | 0.9936 | likely_pathogenic | 0.9949 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| A/F | 0.9209 | likely_pathogenic | 0.9365 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| A/G | 0.3654 | ambiguous | 0.4121 | ambiguous | -0.779 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.460669318 | None | None | N |
| A/H | 0.9941 | likely_pathogenic | 0.9956 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| A/I | 0.709 | likely_pathogenic | 0.7347 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| A/K | 0.9976 | likely_pathogenic | 0.9981 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| A/L | 0.6657 | likely_pathogenic | 0.6924 | pathogenic | 0.19 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/M | 0.7483 | likely_pathogenic | 0.7826 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| A/N | 0.9874 | likely_pathogenic | 0.9908 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | None | None | N |
| A/P | 0.9927 | likely_pathogenic | 0.9929 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.897 | deleterious | N | 0.498777159 | None | None | N |
| A/Q | 0.9857 | likely_pathogenic | 0.9885 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| A/R | 0.9922 | likely_pathogenic | 0.9933 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| A/S | 0.3773 | ambiguous | 0.4267 | ambiguous | -0.997 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.49827018 | None | None | N |
| A/T | 0.4865 | ambiguous | 0.5605 | ambiguous | -0.845 | Destabilizing | 1.0 | D | 0.872 | deleterious | N | 0.471518645 | None | None | N |
| A/V | 0.3738 | ambiguous | 0.3937 | ambiguous | 0.011 | Stabilizing | 1.0 | D | 0.757 | deleterious | N | 0.474234087 | None | None | N |
| A/W | 0.997 | likely_pathogenic | 0.9977 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| A/Y | 0.9801 | likely_pathogenic | 0.9847 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.949 | deleterious | 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.