Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16708 | 50347;50348;50349 | chr2:178612403;178612402;178612401 | chr2:179477130;179477129;179477128 |
| N2AB | 15067 | 45424;45425;45426 | chr2:178612403;178612402;178612401 | chr2:179477130;179477129;179477128 |
| N2A | 14140 | 42643;42644;42645 | chr2:178612403;178612402;178612401 | chr2:179477130;179477129;179477128 |
| N2B | 7643 | 23152;23153;23154 | chr2:178612403;178612402;178612401 | chr2:179477130;179477129;179477128 |
| Novex-1 | 7768 | 23527;23528;23529 | chr2:178612403;178612402;178612401 | chr2:179477130;179477129;179477128 |
| Novex-2 | 7835 | 23728;23729;23730 | chr2:178612403;178612402;178612401 | chr2:179477130;179477129;179477128 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs2056500591  |
None | 0.625 | D | 0.471 | 0.278 | 0.220303561663 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs2056500591 |
None | 0.625 | D | 0.471 | 0.278 | 0.220303561663 | gnomAD-4.0.0 | 2.56635E-06 | None | None | None | None | N | None | 0 | 1.69745E-05 | None | 0 | 0 | None | 0 | 2.24719E-04 | 0 | 0 | 0 |
| T/N | rs777539591 |
-0.752 | 0.989 | N | 0.465 | 0.284 | 0.372268306217 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/N | rs777539591 |
-0.752 | 0.989 | N | 0.465 | 0.284 | 0.372268306217 | gnomAD-4.0.0 | 1.36939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31922E-05 | 0 |
| T/P | None | None | 0.989 | N | 0.527 | 0.488 | 0.430579932962 | gnomAD-4.0.0 | 1.59389E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03214E-05 |
| T/S | None | None | 0.891 | N | 0.475 | 0.286 | 0.199424873507 | gnomAD-4.0.0 | 1.36939E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79969E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1644 | likely_benign | 0.1756 | benign | -0.852 | Destabilizing | 0.625 | D | 0.471 | neutral | D | 0.54460971 | None | None | N |
| T/C | 0.5585 | ambiguous | 0.6194 | pathogenic | -0.515 | Destabilizing | 0.998 | D | 0.531 | neutral | None | None | None | None | N |
| T/D | 0.8001 | likely_pathogenic | 0.8533 | pathogenic | -0.742 | Destabilizing | 0.991 | D | 0.517 | neutral | None | None | None | None | N |
| T/E | 0.6026 | likely_pathogenic | 0.6821 | pathogenic | -0.577 | Destabilizing | 0.991 | D | 0.514 | neutral | None | None | None | None | N |
| T/F | 0.6067 | likely_pathogenic | 0.6607 | pathogenic | -0.633 | Destabilizing | 0.949 | D | 0.587 | neutral | None | None | None | None | N |
| T/G | 0.5001 | ambiguous | 0.5374 | ambiguous | -1.246 | Destabilizing | 0.971 | D | 0.571 | neutral | None | None | None | None | N |
| T/H | 0.667 | likely_pathogenic | 0.7183 | pathogenic | -1.293 | Destabilizing | 0.998 | D | 0.607 | neutral | None | None | None | None | N |
| T/I | 0.284 | likely_benign | 0.2749 | benign | 0.161 | Stabilizing | 0.012 | N | 0.353 | neutral | D | 0.527284132 | None | None | N |
| T/K | 0.4987 | ambiguous | 0.6213 | pathogenic | -0.396 | Destabilizing | 0.974 | D | 0.507 | neutral | None | None | None | None | N |
| T/L | 0.1275 | likely_benign | 0.1261 | benign | 0.161 | Stabilizing | 0.007 | N | 0.313 | neutral | None | None | None | None | N |
| T/M | 0.1357 | likely_benign | 0.1287 | benign | 0.095 | Stabilizing | 0.949 | D | 0.541 | neutral | None | None | None | None | N |
| T/N | 0.2841 | likely_benign | 0.3104 | benign | -0.954 | Destabilizing | 0.989 | D | 0.465 | neutral | N | 0.472191112 | None | None | N |
| T/P | 0.2606 | likely_benign | 0.3205 | benign | -0.144 | Destabilizing | 0.989 | D | 0.527 | neutral | N | 0.477303523 | None | None | N |
| T/Q | 0.466 | ambiguous | 0.5283 | ambiguous | -0.76 | Destabilizing | 0.991 | D | 0.542 | neutral | None | None | None | None | N |
| T/R | 0.4526 | ambiguous | 0.6045 | pathogenic | -0.504 | Destabilizing | 0.991 | D | 0.527 | neutral | None | None | None | None | N |
| T/S | 0.2685 | likely_benign | 0.2743 | benign | -1.237 | Destabilizing | 0.891 | D | 0.475 | neutral | N | 0.507090428 | None | None | N |
| T/V | 0.214 | likely_benign | 0.2021 | benign | -0.144 | Destabilizing | 0.525 | D | 0.449 | neutral | None | None | None | None | N |
| T/W | 0.9017 | likely_pathogenic | 0.9337 | pathogenic | -0.768 | Destabilizing | 0.998 | D | 0.634 | neutral | None | None | None | None | N |
| T/Y | 0.686 | likely_pathogenic | 0.7583 | pathogenic | -0.381 | Destabilizing | 0.991 | D | 0.597 | 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.