Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15419 | 46480;46481;46482 | chr2:178620266;178620265;178620264 | chr2:179484993;179484992;179484991 |
| N2AB | 13778 | 41557;41558;41559 | chr2:178620266;178620265;178620264 | chr2:179484993;179484992;179484991 |
| N2A | 12851 | 38776;38777;38778 | chr2:178620266;178620265;178620264 | chr2:179484993;179484992;179484991 |
| N2B | 6354 | 19285;19286;19287 | chr2:178620266;178620265;178620264 | chr2:179484993;179484992;179484991 |
| Novex-1 | 6479 | 19660;19661;19662 | chr2:178620266;178620265;178620264 | chr2:179484993;179484992;179484991 |
| Novex-2 | 6546 | 19861;19862;19863 | chr2:178620266;178620265;178620264 | chr2:179484993;179484992;179484991 |
| 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/S | rs761783891  |
-1.466 | 0.989 | D | 0.663 | 0.296 | 0.349647731962 | gnomAD-2.1.1 | 1.04E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.25188E-04 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs761783891 |
-1.466 | 0.989 | D | 0.663 | 0.296 | 0.349647731962 | gnomAD-4.0.0 | 7.19108E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.56476E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs761783891 |
-1.457 | 0.977 | D | 0.705 | 0.351 | 0.381409048467 | gnomAD-2.1.1 | 1.04E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.17E-05 | 0 |
| A/T | rs761783891 |
-1.457 | 0.977 | D | 0.705 | 0.351 | 0.381409048467 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs761783891 |
-1.457 | 0.977 | D | 0.705 | 0.351 | 0.381409048467 | gnomAD-4.0.0 | 2.39872E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.13583E-05 | 0 | 1.6893E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6305 | likely_pathogenic | 0.7566 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/D | 0.595 | likely_pathogenic | 0.7311 | pathogenic | -1.091 | Destabilizing | 0.999 | D | 0.783 | deleterious | D | 0.622928781 | None | None | N |
| A/E | 0.5093 | ambiguous | 0.6442 | pathogenic | -1.167 | Destabilizing | 0.998 | D | 0.794 | deleterious | None | None | None | None | N |
| A/F | 0.6469 | likely_pathogenic | 0.7743 | pathogenic | -0.989 | Destabilizing | 0.998 | D | 0.796 | deleterious | None | None | None | None | N |
| A/G | 0.2028 | likely_benign | 0.2629 | benign | -0.902 | Destabilizing | 0.989 | D | 0.661 | neutral | D | 0.564039147 | None | None | N |
| A/H | 0.7727 | likely_pathogenic | 0.8468 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/I | 0.4251 | ambiguous | 0.6618 | pathogenic | -0.343 | Destabilizing | 0.966 | D | 0.745 | deleterious | None | None | None | None | N |
| A/K | 0.8103 | likely_pathogenic | 0.8913 | pathogenic | -1.113 | Destabilizing | 0.998 | D | 0.802 | deleterious | None | None | None | None | N |
| A/L | 0.3926 | ambiguous | 0.5869 | pathogenic | -0.343 | Destabilizing | 0.966 | D | 0.671 | neutral | None | None | None | None | N |
| A/M | 0.4498 | ambiguous | 0.6391 | pathogenic | -0.256 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| A/N | 0.4822 | ambiguous | 0.6428 | pathogenic | -0.625 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| A/P | 0.4621 | ambiguous | 0.7366 | pathogenic | -0.426 | Destabilizing | 0.999 | D | 0.807 | deleterious | N | 0.467470361 | None | None | N |
| A/Q | 0.5969 | likely_pathogenic | 0.7016 | pathogenic | -0.839 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| A/R | 0.7688 | likely_pathogenic | 0.8359 | pathogenic | -0.708 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| A/S | 0.1385 | likely_benign | 0.1734 | benign | -0.851 | Destabilizing | 0.989 | D | 0.663 | neutral | D | 0.533769733 | None | None | N |
| A/T | 0.1526 | likely_benign | 0.2425 | benign | -0.846 | Destabilizing | 0.977 | D | 0.705 | prob.neutral | D | 0.543370682 | None | None | N |
| A/V | 0.1933 | likely_benign | 0.3521 | ambiguous | -0.426 | Destabilizing | 0.235 | N | 0.408 | neutral | N | 0.499174197 | None | None | N |
| A/W | 0.9101 | likely_pathogenic | 0.9444 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| A/Y | 0.7479 | likely_pathogenic | 0.8288 | pathogenic | -0.906 | Destabilizing | 0.999 | D | 0.798 | 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.