Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 115 | 568;569;570 | chr2:178800635;178800634;178800633 | chr2:179665362;179665361;179665360 |
| N2AB | 115 | 568;569;570 | chr2:178800635;178800634;178800633 | chr2:179665362;179665361;179665360 |
| N2A | 115 | 568;569;570 | chr2:178800635;178800634;178800633 | chr2:179665362;179665361;179665360 |
| N2B | 115 | 568;569;570 | chr2:178800635;178800634;178800633 | chr2:179665362;179665361;179665360 |
| Novex-1 | 115 | 568;569;570 | chr2:178800635;178800634;178800633 | chr2:179665362;179665361;179665360 |
| Novex-2 | 115 | 568;569;570 | chr2:178800635;178800634;178800633 | chr2:179665362;179665361;179665360 |
| Novex-3 | 115 | 568;569;570 | chr2:178800635;178800634;178800633 | chr2:179665362;179665361;179665360 |
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/M | rs564777385  |
-1.502 | 1.0 | D | 0.702 | 0.531 | 0.694597339098 | gnomAD-2.1.1 | 3.57E-05 | None | None | None | -0.556(TCAP) | N | None | 4.01E-05 | 1.41957E-04 | None | 0 | 0 | None | 6.63E-05 | None | 0 | 1.56E-05 | 0 |
| V/M | rs564777385 |
-1.502 | 1.0 | D | 0.702 | 0.531 | 0.694597339098 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | -0.556(TCAP) | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 4.13907E-04 | 0 |
| V/M | rs564777385 |
-1.502 | 1.0 | D | 0.702 | 0.531 | 0.694597339098 | 1000 genomes | 3.99361E-04 | None | None | None | -0.556(TCAP) | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 2E-03 | None |
| V/M | rs564777385 |
-1.502 | 1.0 | D | 0.702 | 0.531 | 0.694597339098 | gnomAD-4.0.0 | 1.36526E-05 | None | None | None | -0.556(TCAP) | N | None | 1.33412E-05 | 8.34975E-05 | None | 0 | 0 | None | 0 | 0 | 8.48585E-06 | 4.40907E-05 | 3.20441E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7893 | likely_pathogenic | 0.8483 | pathogenic | -1.689 | Destabilizing | 0.166 | N | 0.273 | neutral | N | 0.51744232 | None | -0.72(TCAP) | N |
| V/C | 0.9803 | likely_pathogenic | 0.9844 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | -0.477(TCAP) | N |
| V/D | 0.9955 | likely_pathogenic | 0.9975 | pathogenic | -1.642 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | -0.452(TCAP) | N |
| V/E | 0.9764 | likely_pathogenic | 0.9844 | pathogenic | -1.621 | Destabilizing | 0.989 | D | 0.691 | prob.neutral | D | 0.669819703 | None | -0.558(TCAP) | N |
| V/F | 0.8764 | likely_pathogenic | 0.9238 | pathogenic | -1.278 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | -0.108(TCAP) | N |
| V/G | 0.9009 | likely_pathogenic | 0.9378 | pathogenic | -2.036 | Highly Destabilizing | 0.997 | D | 0.699 | prob.neutral | D | 0.625954129 | None | -0.684(TCAP) | N |
| V/H | 0.996 | likely_pathogenic | 0.9972 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | 0.115(TCAP) | N |
| V/I | 0.211 | likely_benign | 0.2339 | benign | -0.82 | Destabilizing | 0.843 | D | 0.518 | neutral | None | None | None | -0.839(TCAP) | N |
| V/K | 0.982 | likely_pathogenic | 0.9868 | pathogenic | -1.408 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | -0.879(TCAP) | N |
| V/L | 0.8478 | likely_pathogenic | 0.8888 | pathogenic | -0.82 | Destabilizing | 0.912 | D | 0.511 | neutral | D | 0.556965219 | None | -0.839(TCAP) | N |
| V/M | 0.7976 | likely_pathogenic | 0.8563 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.661516819 | None | -0.556(TCAP) | N |
| V/N | 0.9887 | likely_pathogenic | 0.9923 | pathogenic | -1.251 | Destabilizing | 0.987 | D | 0.732 | prob.delet. | None | None | None | -0.703(TCAP) | N |
| V/P | 0.9953 | likely_pathogenic | 0.9965 | pathogenic | -1.076 | Destabilizing | 0.987 | D | 0.693 | prob.neutral | None | None | None | -0.798(TCAP) | N |
| V/Q | 0.9724 | likely_pathogenic | 0.98 | pathogenic | -1.409 | Destabilizing | 0.997 | D | 0.702 | prob.neutral | None | None | None | -0.65(TCAP) | N |
| V/R | 0.9705 | likely_pathogenic | 0.9782 | pathogenic | -0.888 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | -0.929(TCAP) | N |
| V/S | 0.9362 | likely_pathogenic | 0.9568 | pathogenic | -1.804 | Destabilizing | 0.993 | D | 0.681 | prob.neutral | None | None | None | -0.471(TCAP) | N |
| V/T | 0.8152 | likely_pathogenic | 0.8578 | pathogenic | -1.672 | Destabilizing | 0.971 | D | 0.589 | neutral | None | None | None | -0.56(TCAP) | N |
| V/W | 0.9985 | likely_pathogenic | 0.9992 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | -0.054(TCAP) | N |
| V/Y | 0.9907 | likely_pathogenic | 0.994 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | -0.139(TCAP) | 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.