Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19989 | 60190;60191;60192 | chr2:178591854;178591853;178591852 | chr2:179456581;179456580;179456579 |
| N2AB | 18348 | 55267;55268;55269 | chr2:178591854;178591853;178591852 | chr2:179456581;179456580;179456579 |
| N2A | 17421 | 52486;52487;52488 | chr2:178591854;178591853;178591852 | chr2:179456581;179456580;179456579 |
| N2B | 10924 | 32995;32996;32997 | chr2:178591854;178591853;178591852 | chr2:179456581;179456580;179456579 |
| Novex-1 | 11049 | 33370;33371;33372 | chr2:178591854;178591853;178591852 | chr2:179456581;179456580;179456579 |
| Novex-2 | 11116 | 33571;33572;33573 | chr2:178591854;178591853;178591852 | chr2:179456581;179456580;179456579 |
| 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 | rs778982581  |
-1.475 | 0.37 | N | 0.248 | 0.142 | 0.391000631824 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.0353E-04 | None | 3.27E-05 | None | 0 | 1.57E-05 | 0 |
| V/A | rs778982581 |
-1.475 | 0.37 | N | 0.248 | 0.142 | 0.391000631824 | 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 | rs778982581 |
-1.475 | 0.37 | N | 0.248 | 0.142 | 0.391000631824 | gnomAD-4.0.0 | 1.36377E-05 | None | None | None | None | N | None | 1.33508E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69554E-05 | 1.09813E-05 | 0 |
| V/G | rs778982581 |
None | 0.987 | N | 0.718 | 0.407 | 0.666881549798 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.82E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs778982581 |
None | 0.987 | N | 0.718 | 0.407 | 0.666881549798 | gnomAD-4.0.0 | 2.47957E-06 | None | None | None | None | N | None | 2.67016E-05 | 1.66889E-05 | None | 0 | 0 | None | 0 | 0 | 8.47771E-07 | 0 | 0 |
| V/I | rs1021499065 |
None | 0.973 | N | 0.481 | 0.262 | 0.427254322456 | gnomAD-4.0.0 | 4.10647E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49808E-06 | 0 | 1.65717E-05 |
| V/L | rs1021499065 |
None | 0.948 | D | 0.449 | 0.304 | 0.504727117792 | gnomAD-4.0.0 | 6.84412E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99616E-07 | 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 | 0.279 | likely_benign | 0.2521 | benign | -1.503 | Destabilizing | 0.37 | N | 0.248 | neutral | N | 0.478021833 | None | None | N |
| V/C | 0.8137 | likely_pathogenic | 0.8408 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| V/D | 0.8343 | likely_pathogenic | 0.8636 | pathogenic | -2.563 | Highly Destabilizing | 0.997 | D | 0.799 | deleterious | N | 0.494605282 | None | None | N |
| V/E | 0.6936 | likely_pathogenic | 0.7402 | pathogenic | -2.535 | Highly Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| V/F | 0.3999 | ambiguous | 0.4317 | ambiguous | -1.251 | Destabilizing | 0.999 | D | 0.754 | deleterious | N | 0.490276869 | None | None | N |
| V/G | 0.5166 | ambiguous | 0.5438 | ambiguous | -1.844 | Destabilizing | 0.987 | D | 0.718 | prob.delet. | N | 0.504013031 | None | None | N |
| V/H | 0.8523 | likely_pathogenic | 0.8792 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/I | 0.1029 | likely_benign | 0.0933 | benign | -0.636 | Destabilizing | 0.973 | D | 0.481 | neutral | N | 0.462126874 | None | None | N |
| V/K | 0.6703 | likely_pathogenic | 0.715 | pathogenic | -1.305 | Destabilizing | 0.995 | D | 0.756 | deleterious | None | None | None | None | N |
| V/L | 0.577 | likely_pathogenic | 0.5533 | ambiguous | -0.636 | Destabilizing | 0.948 | D | 0.449 | neutral | D | 0.522311328 | None | None | N |
| V/M | 0.2934 | likely_benign | 0.2759 | benign | -0.592 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | N |
| V/N | 0.7013 | likely_pathogenic | 0.7085 | pathogenic | -1.336 | Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| V/P | 0.9639 | likely_pathogenic | 0.9667 | pathogenic | -0.894 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| V/Q | 0.6378 | likely_pathogenic | 0.7017 | pathogenic | -1.511 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| V/R | 0.5664 | likely_pathogenic | 0.6408 | pathogenic | -0.872 | Destabilizing | 0.998 | D | 0.814 | deleterious | None | None | None | None | N |
| V/S | 0.4337 | ambiguous | 0.4328 | ambiguous | -1.722 | Destabilizing | 0.99 | D | 0.684 | prob.neutral | None | None | None | None | N |
| V/T | 0.2247 | likely_benign | 0.2076 | benign | -1.59 | Destabilizing | 0.983 | D | 0.48 | neutral | None | None | None | None | N |
| V/W | 0.9282 | likely_pathogenic | 0.9414 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| V/Y | 0.8011 | likely_pathogenic | 0.8327 | pathogenic | -1.243 | Destabilizing | 0.999 | D | 0.757 | 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.