Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26757 | 80494;80495;80496 | chr2:178565863;178565862;178565861 | chr2:179430590;179430589;179430588 |
| N2AB | 25116 | 75571;75572;75573 | chr2:178565863;178565862;178565861 | chr2:179430590;179430589;179430588 |
| N2A | 24189 | 72790;72791;72792 | chr2:178565863;178565862;178565861 | chr2:179430590;179430589;179430588 |
| N2B | 17692 | 53299;53300;53301 | chr2:178565863;178565862;178565861 | chr2:179430590;179430589;179430588 |
| Novex-1 | 17817 | 53674;53675;53676 | chr2:178565863;178565862;178565861 | chr2:179430590;179430589;179430588 |
| Novex-2 | 17884 | 53875;53876;53877 | chr2:178565863;178565862;178565861 | chr2:179430590;179430589;179430588 |
| 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 | rs1705638495  |
None | 1.0 | D | 0.656 | 0.798 | 0.79650408869 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/D | None | None | 1.0 | D | 0.89 | 0.866 | 0.907724474544 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| V/L | rs1170675568 |
-1.076 | 0.97 | D | 0.602 | 0.571 | 0.68145362076 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/L | rs1170675568 |
-1.076 | 0.97 | D | 0.602 | 0.571 | 0.68145362076 | gnomAD-4.0.0 | 2.73706E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69867E-06 | 0 | 1.65695E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9186 | likely_pathogenic | 0.9099 | pathogenic | -2.696 | Highly Destabilizing | 1.0 | D | 0.656 | neutral | D | 0.55560654 | None | None | N |
| V/C | 0.9731 | likely_pathogenic | 0.9735 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| V/D | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.503 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.644806533 | None | None | N |
| V/E | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -3.208 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/F | 0.9605 | likely_pathogenic | 0.9473 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.578483735 | None | None | N |
| V/G | 0.9606 | likely_pathogenic | 0.9563 | pathogenic | -3.226 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.644806533 | None | None | N |
| V/H | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -2.92 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/I | 0.1157 | likely_benign | 0.1091 | benign | -1.123 | Destabilizing | 0.844 | D | 0.313 | neutral | D | 0.526656434 | None | None | N |
| V/K | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -2.278 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/L | 0.7788 | likely_pathogenic | 0.7561 | pathogenic | -1.123 | Destabilizing | 0.97 | D | 0.602 | neutral | D | 0.540194402 | None | None | N |
| V/M | 0.8674 | likely_pathogenic | 0.8434 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/N | 0.9972 | likely_pathogenic | 0.9967 | pathogenic | -2.936 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| V/P | 0.9982 | likely_pathogenic | 0.998 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/Q | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| V/R | 0.9962 | likely_pathogenic | 0.9959 | pathogenic | -2.26 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| V/S | 0.9865 | likely_pathogenic | 0.9838 | pathogenic | -3.376 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/T | 0.9544 | likely_pathogenic | 0.9514 | pathogenic | -2.948 | Highly Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| V/W | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.967 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/Y | 0.9971 | likely_pathogenic | 0.9964 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.835 | 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.