Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8674 | 26245;26246;26247 | chr2:178715166;178715165;178715164 | chr2:179579893;179579892;179579891 |
| N2AB | 8357 | 25294;25295;25296 | chr2:178715166;178715165;178715164 | chr2:179579893;179579892;179579891 |
| N2A | 7430 | 22513;22514;22515 | chr2:178715166;178715165;178715164 | chr2:179579893;179579892;179579891 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/D | None | None | 0.999 | D | 0.864 | 0.873 | 0.927335862034 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | rs375710902  |
-0.467 | 0.059 | N | 0.205 | 0.165 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | I | None | 2.06714E-04 | 0 | None | 0 | 5.12E-05 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs375710902 |
-0.467 | 0.059 | N | 0.205 | 0.165 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs375710902 |
-0.467 | 0.059 | N | 0.205 | 0.165 | None | gnomAD-4.0.0 | 6.81711E-06 | None | None | None | None | I | None | 1.06812E-04 | 0 | None | 0 | 2.22777E-05 | None | 0 | 0 | 1.69531E-06 | 0 | 0 |
| V/L | None | None | 0.652 | D | 0.544 | 0.51 | 0.606491963429 | gnomAD-4.0.0 | 1.36848E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 1.1595E-05 | 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 | 0.5719 | likely_pathogenic | 0.52 | ambiguous | -1.184 | Destabilizing | 0.958 | D | 0.631 | neutral | D | 0.587783315 | None | None | I |
| V/C | 0.8754 | likely_pathogenic | 0.8533 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| V/D | 0.9514 | likely_pathogenic | 0.9222 | pathogenic | -0.559 | Destabilizing | 0.999 | D | 0.864 | deleterious | D | 0.621063223 | None | None | I |
| V/E | 0.9085 | likely_pathogenic | 0.8761 | pathogenic | -0.573 | Destabilizing | 0.996 | D | 0.87 | deleterious | None | None | None | None | I |
| V/F | 0.3851 | ambiguous | 0.3563 | ambiguous | -0.93 | Destabilizing | 0.997 | D | 0.797 | deleterious | D | 0.57428972 | None | None | I |
| V/G | 0.7211 | likely_pathogenic | 0.6468 | pathogenic | -1.487 | Destabilizing | 0.999 | D | 0.862 | deleterious | D | 0.621063223 | None | None | I |
| V/H | 0.9483 | likely_pathogenic | 0.9277 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| V/I | 0.0742 | likely_benign | 0.0744 | benign | -0.47 | Destabilizing | 0.059 | N | 0.205 | neutral | N | 0.443253977 | None | None | I |
| V/K | 0.9263 | likely_pathogenic | 0.8889 | pathogenic | -0.895 | Destabilizing | 0.995 | D | 0.872 | deleterious | None | None | None | None | I |
| V/L | 0.3608 | ambiguous | 0.3333 | benign | -0.47 | Destabilizing | 0.652 | D | 0.544 | neutral | D | 0.538110798 | None | None | I |
| V/M | 0.312 | likely_benign | 0.306 | benign | -0.406 | Destabilizing | 0.993 | D | 0.745 | deleterious | None | None | None | None | I |
| V/N | 0.8766 | likely_pathogenic | 0.8198 | pathogenic | -0.629 | Destabilizing | 0.988 | D | 0.877 | deleterious | None | None | None | None | I |
| V/P | 0.9266 | likely_pathogenic | 0.8909 | pathogenic | -0.671 | Destabilizing | 0.988 | D | 0.875 | deleterious | None | None | None | None | I |
| V/Q | 0.8878 | likely_pathogenic | 0.8479 | pathogenic | -0.769 | Destabilizing | 0.998 | D | 0.883 | deleterious | None | None | None | None | I |
| V/R | 0.8976 | likely_pathogenic | 0.8405 | pathogenic | -0.472 | Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | I |
| V/S | 0.7408 | likely_pathogenic | 0.6708 | pathogenic | -1.211 | Destabilizing | 0.995 | D | 0.873 | deleterious | None | None | None | None | I |
| V/T | 0.5581 | ambiguous | 0.5084 | ambiguous | -1.102 | Destabilizing | 0.925 | D | 0.743 | deleterious | None | None | None | None | I |
| V/W | 0.9599 | likely_pathogenic | 0.9458 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| V/Y | 0.8617 | likely_pathogenic | 0.8228 | pathogenic | -0.776 | Destabilizing | 0.999 | D | 0.787 | deleterious | 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.