Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21763 | 65512;65513;65514 | chr2:178583895;178583894;178583893 | chr2:179448622;179448621;179448620 |
| N2AB | 20122 | 60589;60590;60591 | chr2:178583895;178583894;178583893 | chr2:179448622;179448621;179448620 |
| N2A | 19195 | 57808;57809;57810 | chr2:178583895;178583894;178583893 | chr2:179448622;179448621;179448620 |
| N2B | 12698 | 38317;38318;38319 | chr2:178583895;178583894;178583893 | chr2:179448622;179448621;179448620 |
| Novex-1 | 12823 | 38692;38693;38694 | chr2:178583895;178583894;178583893 | chr2:179448622;179448621;179448620 |
| Novex-2 | 12890 | 38893;38894;38895 | chr2:178583895;178583894;178583893 | chr2:179448622;179448621;179448620 |
| 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/E | rs769574243  |
0.142 | 0.958 | N | 0.481 | 0.269 | 0.334659703779 | gnomAD-2.1.1 | 4.71E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.05E-05 | 0 |
| K/E | rs769574243 |
0.142 | 0.958 | N | 0.481 | 0.269 | 0.334659703779 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/E | rs769574243 |
0.142 | 0.958 | N | 0.481 | 0.269 | 0.334659703779 | gnomAD-4.0.0 | 6.57713E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47115E-05 | 0 | 0 |
| K/Q | None | None | 0.988 | N | 0.675 | 0.274 | 0.305730143919 | gnomAD-4.0.0 | 7.03354E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18854E-07 | 0 | 0 |
| K/T | None | None | 0.988 | N | 0.767 | 0.336 | 0.352048277211 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7135 | likely_pathogenic | 0.6597 | pathogenic | -0.435 | Destabilizing | 0.968 | D | 0.593 | neutral | None | None | None | None | N |
| K/C | 0.8407 | likely_pathogenic | 0.7777 | pathogenic | -0.539 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| K/D | 0.9345 | likely_pathogenic | 0.9185 | pathogenic | -0.319 | Destabilizing | 0.995 | D | 0.804 | deleterious | None | None | None | None | N |
| K/E | 0.5315 | ambiguous | 0.4854 | ambiguous | -0.262 | Destabilizing | 0.958 | D | 0.481 | neutral | N | 0.50418414 | None | None | N |
| K/F | 0.9225 | likely_pathogenic | 0.8932 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| K/G | 0.8856 | likely_pathogenic | 0.8553 | pathogenic | -0.744 | Destabilizing | 0.991 | D | 0.743 | deleterious | None | None | None | None | N |
| K/H | 0.5836 | likely_pathogenic | 0.5304 | ambiguous | -1.2 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| K/I | 0.5921 | likely_pathogenic | 0.5252 | ambiguous | 0.339 | Stabilizing | 0.994 | D | 0.842 | deleterious | N | 0.472013894 | None | None | N |
| K/L | 0.5967 | likely_pathogenic | 0.5639 | ambiguous | 0.339 | Stabilizing | 0.991 | D | 0.743 | deleterious | None | None | None | None | N |
| K/M | 0.4149 | ambiguous | 0.3702 | ambiguous | 0.376 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| K/N | 0.7852 | likely_pathogenic | 0.7415 | pathogenic | -0.314 | Destabilizing | 0.988 | D | 0.681 | prob.neutral | N | 0.476895964 | None | None | N |
| K/P | 0.7647 | likely_pathogenic | 0.6891 | pathogenic | 0.111 | Stabilizing | 0.998 | D | 0.82 | deleterious | None | None | None | None | N |
| K/Q | 0.2659 | likely_benign | 0.2329 | benign | -0.545 | Destabilizing | 0.988 | D | 0.675 | prob.neutral | N | 0.481019279 | None | None | N |
| K/R | 0.1212 | likely_benign | 0.1094 | benign | -0.494 | Destabilizing | 0.142 | N | 0.307 | neutral | N | 0.503010704 | None | None | N |
| K/S | 0.7996 | likely_pathogenic | 0.7557 | pathogenic | -0.924 | Destabilizing | 0.968 | D | 0.572 | neutral | None | None | None | None | N |
| K/T | 0.4297 | ambiguous | 0.3852 | ambiguous | -0.685 | Destabilizing | 0.988 | D | 0.767 | deleterious | N | 0.476864253 | None | None | N |
| K/V | 0.59 | likely_pathogenic | 0.5338 | ambiguous | 0.111 | Stabilizing | 0.995 | D | 0.81 | deleterious | None | None | None | None | N |
| K/W | 0.9335 | likely_pathogenic | 0.9118 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/Y | 0.844 | likely_pathogenic | 0.8041 | pathogenic | 0.052 | Stabilizing | 0.998 | D | 0.836 | 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.