Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32096 | 96511;96512;96513 | chr2:178543858;178543857;178543856 | chr2:179408585;179408584;179408583 |
| N2AB | 30455 | 91588;91589;91590 | chr2:178543858;178543857;178543856 | chr2:179408585;179408584;179408583 |
| N2A | 29528 | 88807;88808;88809 | chr2:178543858;178543857;178543856 | chr2:179408585;179408584;179408583 |
| N2B | 23031 | 69316;69317;69318 | chr2:178543858;178543857;178543856 | chr2:179408585;179408584;179408583 |
| Novex-1 | 23156 | 69691;69692;69693 | chr2:178543858;178543857;178543856 | chr2:179408585;179408584;179408583 |
| Novex-2 | 23223 | 69892;69893;69894 | chr2:178543858;178543857;178543856 | chr2:179408585;179408584;179408583 |
| 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/P | None | None | 0.999 | D | 0.779 | 0.529 | 0.675138954982 | gnomAD-4.0.0 | 6.84273E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65695E-05 |
| A/T | rs376039623  |
-0.882 | 0.576 | N | 0.398 | 0.248 | None | gnomAD-2.1.1 | 8.06E-05 | None | None | None | None | N | None | 0 | 1.74044E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.24909E-04 | 0 |
| A/T | rs376039623 |
-0.882 | 0.576 | N | 0.398 | 0.248 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 1.96361E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 9.57854E-04 |
| A/T | rs376039623 |
-0.882 | 0.576 | N | 0.398 | 0.248 | None | gnomAD-4.0.0 | 3.78047E-05 | None | None | None | None | N | None | 0 | 2.0002E-04 | None | 0 | 0 | None | 0 | 0 | 3.81457E-05 | 0 | 6.40615E-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 | 0.4797 | ambiguous | 0.4629 | ambiguous | -0.833 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/D | 0.7216 | likely_pathogenic | 0.6503 | pathogenic | -0.177 | Destabilizing | 0.998 | D | 0.811 | deleterious | None | None | None | None | N |
| A/E | 0.611 | likely_pathogenic | 0.5536 | ambiguous | -0.296 | Destabilizing | 0.997 | D | 0.765 | deleterious | N | 0.495482607 | None | None | N |
| A/F | 0.5191 | ambiguous | 0.4636 | ambiguous | -0.766 | Destabilizing | 0.998 | D | 0.803 | deleterious | None | None | None | None | N |
| A/G | 0.2558 | likely_benign | 0.228 | benign | -0.429 | Destabilizing | 0.989 | D | 0.629 | neutral | N | 0.51745816 | None | None | N |
| A/H | 0.7387 | likely_pathogenic | 0.704 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/I | 0.3432 | ambiguous | 0.3049 | benign | -0.219 | Destabilizing | 0.643 | D | 0.52 | neutral | None | None | None | None | N |
| A/K | 0.7758 | likely_pathogenic | 0.7216 | pathogenic | -0.648 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | N |
| A/L | 0.3164 | likely_benign | 0.284 | benign | -0.219 | Destabilizing | 0.967 | D | 0.623 | neutral | None | None | None | None | N |
| A/M | 0.3119 | likely_benign | 0.2796 | benign | -0.364 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| A/N | 0.5706 | likely_pathogenic | 0.5204 | ambiguous | -0.351 | Destabilizing | 0.998 | D | 0.805 | deleterious | None | None | None | None | N |
| A/P | 0.985 | likely_pathogenic | 0.9816 | pathogenic | -0.215 | Destabilizing | 0.999 | D | 0.779 | deleterious | D | 0.551253857 | None | None | N |
| A/Q | 0.5674 | likely_pathogenic | 0.5257 | ambiguous | -0.551 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| A/R | 0.7238 | likely_pathogenic | 0.6746 | pathogenic | -0.276 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| A/S | 0.1424 | likely_benign | 0.1323 | benign | -0.649 | Destabilizing | 0.956 | D | 0.565 | neutral | N | 0.50379543 | None | None | N |
| A/T | 0.12 | likely_benign | 0.112 | benign | -0.667 | Destabilizing | 0.576 | D | 0.398 | neutral | N | 0.509972041 | None | None | N |
| A/V | 0.1708 | likely_benign | 0.1537 | benign | -0.215 | Destabilizing | 0.956 | D | 0.601 | neutral | N | 0.514532498 | None | None | N |
| A/W | 0.9044 | likely_pathogenic | 0.8853 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/Y | 0.6829 | likely_pathogenic | 0.6477 | pathogenic | -0.575 | Destabilizing | 0.999 | D | 0.796 | 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.