Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17622 | 53089;53090;53091 | chr2:178607923;178607922;178607921 | chr2:179472650;179472649;179472648 |
| N2AB | 15981 | 48166;48167;48168 | chr2:178607923;178607922;178607921 | chr2:179472650;179472649;179472648 |
| N2A | 15054 | 45385;45386;45387 | chr2:178607923;178607922;178607921 | chr2:179472650;179472649;179472648 |
| N2B | 8557 | 25894;25895;25896 | chr2:178607923;178607922;178607921 | chr2:179472650;179472649;179472648 |
| Novex-1 | 8682 | 26269;26270;26271 | chr2:178607923;178607922;178607921 | chr2:179472650;179472649;179472648 |
| Novex-2 | 8749 | 26470;26471;26472 | chr2:178607923;178607922;178607921 | chr2:179472650;179472649;179472648 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/M | rs763564746  |
0.229 | 0.999 | N | 0.421 | 0.389 | 0.355865052028 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| K/M | rs763564746 |
0.229 | 0.999 | N | 0.421 | 0.389 | 0.355865052028 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/M | rs763564746 |
0.229 | 0.999 | N | 0.421 | 0.389 | 0.355865052028 | gnomAD-4.0.0 | 1.31624E-05 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47258E-05 | 0 | 0 |
| K/N | None | None | 0.896 | N | 0.4 | 0.223 | 0.139678290688 | 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 |
| K/R | rs763564746 |
0.32 | 0.026 | N | 0.247 | 0.1 | 0.154104182512 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| K/R | rs763564746 |
0.32 | 0.026 | N | 0.247 | 0.1 | 0.154104182512 | gnomAD-4.0.0 | 1.84808E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.42936E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3725 | ambiguous | 0.3211 | benign | 0.068 | Stabilizing | 0.919 | D | 0.505 | neutral | None | None | None | None | N |
| K/C | 0.7521 | likely_pathogenic | 0.7018 | pathogenic | -0.361 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| K/D | 0.4814 | ambiguous | 0.4053 | ambiguous | -0.216 | Destabilizing | 0.919 | D | 0.435 | neutral | None | None | None | None | N |
| K/E | 0.1882 | likely_benign | 0.1582 | benign | -0.219 | Destabilizing | 0.64 | D | 0.484 | neutral | N | 0.407369669 | None | None | N |
| K/F | 0.7954 | likely_pathogenic | 0.7314 | pathogenic | -0.225 | Destabilizing | 0.996 | D | 0.573 | neutral | None | None | None | None | N |
| K/G | 0.4106 | ambiguous | 0.3446 | ambiguous | -0.08 | Destabilizing | 0.959 | D | 0.474 | neutral | None | None | None | None | N |
| K/H | 0.323 | likely_benign | 0.2858 | benign | -0.184 | Destabilizing | 0.988 | D | 0.417 | neutral | None | None | None | None | N |
| K/I | 0.4653 | ambiguous | 0.4372 | ambiguous | 0.377 | Stabilizing | 0.988 | D | 0.564 | neutral | None | None | None | None | N |
| K/L | 0.4653 | ambiguous | 0.4153 | ambiguous | 0.377 | Stabilizing | 0.919 | D | 0.474 | neutral | None | None | None | None | N |
| K/M | 0.2975 | likely_benign | 0.2639 | benign | -0.049 | Destabilizing | 0.999 | D | 0.421 | neutral | N | 0.482907578 | None | None | N |
| K/N | 0.3238 | likely_benign | 0.2751 | benign | 0.1 | Stabilizing | 0.896 | D | 0.4 | neutral | N | 0.445042623 | None | None | N |
| K/P | 0.8222 | likely_pathogenic | 0.7688 | pathogenic | 0.298 | Stabilizing | 0.996 | D | 0.424 | neutral | None | None | None | None | N |
| K/Q | 0.1532 | likely_benign | 0.1368 | benign | -0.029 | Destabilizing | 0.251 | N | 0.261 | neutral | N | 0.433094833 | None | None | N |
| K/R | 0.0919 | likely_benign | 0.0894 | benign | -0.04 | Destabilizing | 0.026 | N | 0.247 | neutral | N | 0.403292001 | None | None | N |
| K/S | 0.4025 | ambiguous | 0.339 | benign | -0.262 | Destabilizing | 0.919 | D | 0.42 | neutral | None | None | None | None | N |
| K/T | 0.1779 | likely_benign | 0.1576 | benign | -0.142 | Destabilizing | 0.946 | D | 0.444 | neutral | N | 0.411314051 | None | None | N |
| K/V | 0.3967 | ambiguous | 0.3641 | ambiguous | 0.298 | Stabilizing | 0.988 | D | 0.461 | neutral | None | None | None | None | N |
| K/W | 0.7732 | likely_pathogenic | 0.7325 | pathogenic | -0.331 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| K/Y | 0.6258 | likely_pathogenic | 0.5698 | pathogenic | 0.025 | Stabilizing | 0.996 | D | 0.511 | 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.