Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24536 | 73831;73832;73833 | chr2:178572526;178572525;178572524 | chr2:179437253;179437252;179437251 |
| N2AB | 22895 | 68908;68909;68910 | chr2:178572526;178572525;178572524 | chr2:179437253;179437252;179437251 |
| N2A | 21968 | 66127;66128;66129 | chr2:178572526;178572525;178572524 | chr2:179437253;179437252;179437251 |
| N2B | 15471 | 46636;46637;46638 | chr2:178572526;178572525;178572524 | chr2:179437253;179437252;179437251 |
| Novex-1 | 15596 | 47011;47012;47013 | chr2:178572526;178572525;178572524 | chr2:179437253;179437252;179437251 |
| Novex-2 | 15663 | 47212;47213;47214 | chr2:178572526;178572525;178572524 | chr2:179437253;179437252;179437251 |
| 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 | rs766221938  |
-3.503 | 1.0 | D | 0.869 | 0.671 | 0.898715279469 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/D | rs766221938 |
-3.503 | 1.0 | D | 0.869 | 0.671 | 0.898715279469 | gnomAD-4.0.0 | 2.05303E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69874E-06 | 0 | 0 |
| V/I | None | None | 0.998 | N | 0.499 | 0.277 | 0.482061804652 | gnomAD-4.0.0 | 6.84348E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73611E-04 | 0 | 0 | 0 |
| V/L | rs1189074797 |
-0.55 | 0.995 | N | 0.589 | 0.313 | 0.429666569261 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/L | rs1189074797 |
-0.55 | 0.995 | N | 0.589 | 0.313 | 0.429666569261 | gnomAD-4.0.0 | 6.84348E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99585E-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 | 0.3278 | likely_benign | 0.2954 | benign | -2.303 | Highly Destabilizing | 1.0 | D | 0.585 | neutral | N | 0.483889012 | None | None | N |
| V/C | 0.8042 | likely_pathogenic | 0.782 | pathogenic | -2.184 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| V/D | 0.9973 | likely_pathogenic | 0.996 | pathogenic | -3.152 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.550945963 | None | None | N |
| V/E | 0.9926 | likely_pathogenic | 0.9897 | pathogenic | -2.854 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/F | 0.8027 | likely_pathogenic | 0.7336 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.50886165 | None | None | N |
| V/G | 0.8041 | likely_pathogenic | 0.7509 | pathogenic | -2.928 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.550692474 | None | None | N |
| V/H | 0.9968 | likely_pathogenic | 0.9953 | pathogenic | -2.785 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/I | 0.1072 | likely_benign | 0.1052 | benign | -0.512 | Destabilizing | 0.998 | D | 0.499 | neutral | N | 0.464261532 | None | None | N |
| V/K | 0.9956 | likely_pathogenic | 0.9939 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/L | 0.4467 | ambiguous | 0.419 | ambiguous | -0.512 | Destabilizing | 0.995 | D | 0.589 | neutral | N | 0.467948517 | None | None | N |
| V/M | 0.4662 | ambiguous | 0.387 | ambiguous | -0.885 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| V/N | 0.9854 | likely_pathogenic | 0.981 | pathogenic | -2.501 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/P | 0.9979 | likely_pathogenic | 0.9966 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/Q | 0.9871 | likely_pathogenic | 0.9822 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/R | 0.9904 | likely_pathogenic | 0.9863 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| V/S | 0.8345 | likely_pathogenic | 0.7859 | pathogenic | -3.133 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/T | 0.6887 | likely_pathogenic | 0.6479 | pathogenic | -2.663 | Highly Destabilizing | 1.0 | D | 0.569 | neutral | None | None | None | None | N |
| V/W | 0.9983 | likely_pathogenic | 0.9969 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| V/Y | 0.9863 | likely_pathogenic | 0.9796 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.869 | 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.