Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9911 | 29956;29957;29958 | chr2:178704741;178704740;178704739 | chr2:179569468;179569467;179569466 |
| N2AB | 9594 | 29005;29006;29007 | chr2:178704741;178704740;178704739 | chr2:179569468;179569467;179569466 |
| N2A | 8667 | 26224;26225;26226 | chr2:178704741;178704740;178704739 | chr2:179569468;179569467;179569466 |
| 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/A | None | None | 0.948 | None | 0.48 | 0.435 | 0.662052801077 | 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 |
| V/F | None | None | 0.999 | None | 0.737 | 0.525 | 0.827634584912 | gnomAD-4.0.0 | 6.85732E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.997E-07 | 0 | 0 |
| V/L | rs2075583653  |
None | 0.948 | None | 0.494 | 0.378 | 0.694527089616 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs2075583653 |
None | 0.948 | None | 0.494 | 0.378 | 0.694527089616 | gnomAD-4.0.0 | 1.8628E-06 | None | None | None | None | N | None | 4.00962E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.627 | likely_pathogenic | 0.6343 | pathogenic | -1.741 | Destabilizing | 0.948 | D | 0.48 | neutral | None | None | None | None | N |
| V/C | 0.955 | likely_pathogenic | 0.954 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| V/D | 0.9746 | likely_pathogenic | 0.9724 | pathogenic | -1.789 | Destabilizing | 0.997 | D | 0.745 | deleterious | None | None | None | None | N |
| V/E | 0.9177 | likely_pathogenic | 0.9102 | pathogenic | -1.765 | Destabilizing | 0.998 | D | 0.706 | prob.neutral | None | None | None | None | N |
| V/F | 0.8055 | likely_pathogenic | 0.7689 | pathogenic | -1.32 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| V/G | 0.869 | likely_pathogenic | 0.8683 | pathogenic | -2.089 | Highly Destabilizing | 0.997 | D | 0.734 | prob.delet. | None | None | None | None | N |
| V/H | 0.9845 | likely_pathogenic | 0.98 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/I | 0.1421 | likely_benign | 0.1327 | benign | -0.862 | Destabilizing | 0.948 | D | 0.499 | neutral | None | None | None | None | N |
| V/K | 0.9369 | likely_pathogenic | 0.934 | pathogenic | -1.369 | Destabilizing | 0.995 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/L | 0.7237 | likely_pathogenic | 0.6989 | pathogenic | -0.862 | Destabilizing | 0.948 | D | 0.494 | neutral | None | None | None | None | N |
| V/M | 0.637 | likely_pathogenic | 0.6034 | pathogenic | -0.687 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| V/N | 0.9386 | likely_pathogenic | 0.9384 | pathogenic | -1.225 | Destabilizing | 0.998 | D | 0.754 | deleterious | None | None | None | None | N |
| V/P | 0.9936 | likely_pathogenic | 0.9946 | pathogenic | -1.122 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9274 | likely_pathogenic | 0.9196 | pathogenic | -1.396 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| V/R | 0.9081 | likely_pathogenic | 0.8999 | pathogenic | -0.859 | Destabilizing | 0.998 | D | 0.767 | deleterious | None | None | None | None | N |
| V/S | 0.8106 | likely_pathogenic | 0.8285 | pathogenic | -1.781 | Destabilizing | 0.99 | D | 0.684 | prob.neutral | None | None | None | None | N |
| V/T | 0.6036 | likely_pathogenic | 0.6153 | pathogenic | -1.648 | Destabilizing | 0.437 | N | 0.361 | neutral | None | None | None | None | N |
| V/W | 0.9971 | likely_pathogenic | 0.9959 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/Y | 0.9816 | likely_pathogenic | 0.9763 | pathogenic | -1.246 | Destabilizing | 0.999 | D | 0.739 | 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.