Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2228 | 6907;6908;6909 | chr2:178775029;178775028;178775027 | chr2:179639756;179639755;179639754 |
| N2AB | 2228 | 6907;6908;6909 | chr2:178775029;178775028;178775027 | chr2:179639756;179639755;179639754 |
| N2A | 2228 | 6907;6908;6909 | chr2:178775029;178775028;178775027 | chr2:179639756;179639755;179639754 |
| N2B | 2182 | 6769;6770;6771 | chr2:178775029;178775028;178775027 | chr2:179639756;179639755;179639754 |
| Novex-1 | 2182 | 6769;6770;6771 | chr2:178775029;178775028;178775027 | chr2:179639756;179639755;179639754 |
| Novex-2 | 2182 | 6769;6770;6771 | chr2:178775029;178775028;178775027 | chr2:179639756;179639755;179639754 |
| Novex-3 | 2228 | 6907;6908;6909 | chr2:178775029;178775028;178775027 | chr2:179639756;179639755;179639754 |
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 | rs752706070  |
-1.829 | 0.011 | N | 0.238 | 0.168 | 0.524063890018 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| V/A | rs752706070 |
-1.829 | 0.011 | N | 0.238 | 0.168 | 0.524063890018 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/A | rs752706070 |
-1.829 | 0.011 | N | 0.238 | 0.168 | 0.524063890018 | gnomAD-4.0.0 | 4.95711E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.77999E-06 | 0 | 0 |
| V/F | None | None | 0.968 | N | 0.726 | 0.305 | 0.839479631173 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| V/G | None | None | 0.811 | N | 0.696 | 0.35 | 0.83007336595 | gnomAD-4.0.0 | 6.84139E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99339E-07 | 0 | 0 |
| V/I | None | None | 0.026 | N | 0.357 | 0.092 | 0.530754069387 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3224 | likely_benign | 0.35 | ambiguous | -1.797 | Destabilizing | 0.011 | N | 0.238 | neutral | N | 0.502111909 | None | None | N |
| V/C | 0.848 | likely_pathogenic | 0.8563 | pathogenic | -1.227 | Destabilizing | 0.997 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/D | 0.7325 | likely_pathogenic | 0.7879 | pathogenic | -2.496 | Highly Destabilizing | 0.984 | D | 0.771 | deleterious | N | 0.499551229 | None | None | N |
| V/E | 0.5803 | likely_pathogenic | 0.6273 | pathogenic | -2.431 | Highly Destabilizing | 0.976 | D | 0.71 | prob.delet. | None | None | None | None | N |
| V/F | 0.3621 | ambiguous | 0.3952 | ambiguous | -1.315 | Destabilizing | 0.968 | D | 0.726 | prob.delet. | N | 0.512652949 | None | None | N |
| V/G | 0.2503 | likely_benign | 0.2708 | benign | -2.175 | Highly Destabilizing | 0.811 | D | 0.696 | prob.neutral | N | 0.508278532 | None | None | N |
| V/H | 0.7883 | likely_pathogenic | 0.8225 | pathogenic | -1.898 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| V/I | 0.1173 | likely_benign | 0.1195 | benign | -0.807 | Destabilizing | 0.026 | N | 0.357 | neutral | N | 0.501486827 | None | None | N |
| V/K | 0.6033 | likely_pathogenic | 0.6694 | pathogenic | -1.478 | Destabilizing | 0.976 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/L | 0.4372 | ambiguous | 0.4834 | ambiguous | -0.807 | Destabilizing | 0.64 | D | 0.454 | neutral | N | 0.501375552 | None | None | N |
| V/M | 0.2772 | likely_benign | 0.3004 | benign | -0.605 | Destabilizing | 0.988 | D | 0.571 | neutral | None | None | None | None | N |
| V/N | 0.4538 | ambiguous | 0.5053 | ambiguous | -1.469 | Destabilizing | 0.988 | D | 0.791 | deleterious | None | None | None | None | N |
| V/P | 0.9792 | likely_pathogenic | 0.9844 | pathogenic | -1.107 | Destabilizing | 0.988 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/Q | 0.5077 | ambiguous | 0.5556 | ambiguous | -1.571 | Destabilizing | 0.988 | D | 0.751 | deleterious | None | None | None | None | N |
| V/R | 0.503 | ambiguous | 0.5751 | pathogenic | -1.037 | Destabilizing | 0.988 | D | 0.789 | deleterious | None | None | None | None | N |
| V/S | 0.3664 | ambiguous | 0.4068 | ambiguous | -1.925 | Destabilizing | 0.851 | D | 0.655 | neutral | None | None | None | None | N |
| V/T | 0.3325 | likely_benign | 0.3638 | ambiguous | -1.759 | Destabilizing | 0.919 | D | 0.521 | neutral | None | None | None | None | N |
| V/W | 0.9293 | likely_pathogenic | 0.9423 | pathogenic | -1.729 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/Y | 0.7314 | likely_pathogenic | 0.7577 | pathogenic | -1.403 | Destabilizing | 0.996 | D | 0.727 | 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.