Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34971 | 105136;105137;105138 | chr2:178531704;178531703;178531702 | chr2:179396431;179396430;179396429 |
| N2AB | 33330 | 100213;100214;100215 | chr2:178531704;178531703;178531702 | chr2:179396431;179396430;179396429 |
| N2A | 32403 | 97432;97433;97434 | chr2:178531704;178531703;178531702 | chr2:179396431;179396430;179396429 |
| N2B | 25906 | 77941;77942;77943 | chr2:178531704;178531703;178531702 | chr2:179396431;179396430;179396429 |
| Novex-1 | 26031 | 78316;78317;78318 | chr2:178531704;178531703;178531702 | chr2:179396431;179396430;179396429 |
| Novex-2 | 26098 | 78517;78518;78519 | chr2:178531704;178531703;178531702 | chr2:179396431;179396430;179396429 |
| 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/V | rs1419052992  |
-0.729 | 0.904 | N | 0.604 | 0.323 | 0.40417439687 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1419052992 |
-0.729 | 0.904 | N | 0.604 | 0.323 | 0.40417439687 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 7.24E-05 | 1.30873E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| A/V | rs1419052992 |
-0.729 | 0.904 | N | 0.604 | 0.323 | 0.40417439687 | gnomAD-4.0.0 | 5.57668E-06 | None | None | None | None | N | None | 8.00876E-05 | 3.33311E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60087E-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 | 0.8288 | likely_pathogenic | 0.8534 | pathogenic | -1.237 | Destabilizing | 0.998 | D | 0.611 | neutral | None | None | None | None | N |
| A/D | 0.9715 | likely_pathogenic | 0.9723 | pathogenic | -1.921 | Destabilizing | 0.942 | D | 0.646 | neutral | D | 0.533539547 | None | None | N |
| A/E | 0.9621 | likely_pathogenic | 0.9559 | pathogenic | -1.977 | Destabilizing | 0.956 | D | 0.669 | neutral | None | None | None | None | N |
| A/F | 0.9772 | likely_pathogenic | 0.9729 | pathogenic | -1.38 | Destabilizing | 0.993 | D | 0.705 | prob.neutral | None | None | None | None | N |
| A/G | 0.3535 | ambiguous | 0.4526 | ambiguous | -1.275 | Destabilizing | 0.014 | N | 0.286 | neutral | N | 0.492467186 | None | None | N |
| A/H | 0.986 | likely_pathogenic | 0.9817 | pathogenic | -1.373 | Destabilizing | 0.998 | D | 0.661 | neutral | None | None | None | None | N |
| A/I | 0.9278 | likely_pathogenic | 0.9306 | pathogenic | -0.641 | Destabilizing | 0.978 | D | 0.685 | prob.neutral | None | None | None | None | N |
| A/K | 0.9933 | likely_pathogenic | 0.9902 | pathogenic | -1.292 | Destabilizing | 0.956 | D | 0.67 | neutral | None | None | None | None | N |
| A/L | 0.8571 | likely_pathogenic | 0.8325 | pathogenic | -0.641 | Destabilizing | 0.926 | D | 0.638 | neutral | None | None | None | None | N |
| A/M | 0.9013 | likely_pathogenic | 0.8771 | pathogenic | -0.506 | Destabilizing | 0.998 | D | 0.632 | neutral | None | None | None | None | N |
| A/N | 0.9519 | likely_pathogenic | 0.9451 | pathogenic | -1.109 | Destabilizing | 0.956 | D | 0.678 | prob.neutral | None | None | None | None | N |
| A/P | 0.6592 | likely_pathogenic | 0.8039 | pathogenic | -0.745 | Destabilizing | 0.971 | D | 0.686 | prob.neutral | N | 0.347748149 | None | None | N |
| A/Q | 0.9598 | likely_pathogenic | 0.948 | pathogenic | -1.377 | Destabilizing | 0.978 | D | 0.684 | prob.neutral | None | None | None | None | N |
| A/R | 0.9808 | likely_pathogenic | 0.968 | pathogenic | -0.858 | Destabilizing | 0.978 | D | 0.684 | prob.neutral | None | None | None | None | N |
| A/S | 0.2152 | likely_benign | 0.2394 | benign | -1.367 | Destabilizing | 0.153 | N | 0.282 | neutral | D | 0.522245118 | None | None | N |
| A/T | 0.4829 | ambiguous | 0.5071 | ambiguous | -1.345 | Destabilizing | 0.698 | D | 0.583 | neutral | D | 0.533019472 | None | None | N |
| A/V | 0.6775 | likely_pathogenic | 0.6858 | pathogenic | -0.745 | Destabilizing | 0.904 | D | 0.604 | neutral | N | 0.521551684 | None | None | N |
| A/W | 0.996 | likely_pathogenic | 0.9943 | pathogenic | -1.649 | Destabilizing | 0.998 | D | 0.665 | neutral | None | None | None | None | N |
| A/Y | 0.9885 | likely_pathogenic | 0.984 | pathogenic | -1.271 | Destabilizing | 0.993 | D | 0.699 | prob.neutral | 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.