Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29831 | 89716;89717;89718 | chr2:178553514;178553513;178553512 | chr2:179418241;179418240;179418239 |
| N2AB | 28190 | 84793;84794;84795 | chr2:178553514;178553513;178553512 | chr2:179418241;179418240;179418239 |
| N2A | 27263 | 82012;82013;82014 | chr2:178553514;178553513;178553512 | chr2:179418241;179418240;179418239 |
| N2B | 20766 | 62521;62522;62523 | chr2:178553514;178553513;178553512 | chr2:179418241;179418240;179418239 |
| Novex-1 | 20891 | 62896;62897;62898 | chr2:178553514;178553513;178553512 | chr2:179418241;179418240;179418239 |
| Novex-2 | 20958 | 63097;63098;63099 | chr2:178553514;178553513;178553512 | chr2:179418241;179418240;179418239 |
| 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 | rs774632104  |
0.276 | 0.997 | N | 0.691 | 0.214 | 0.297718772494 | gnomAD-2.1.1 | 3.25E-05 | None | None | None | None | N | None | 0 | 5.71E-05 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 4.73E-05 | 0 |
| K/E | rs774632104 |
0.276 | 0.997 | N | 0.691 | 0.214 | 0.297718772494 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 1.96309E-04 | 0 | 0 | 3.8506E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| K/E | rs774632104 |
0.276 | 0.997 | N | 0.691 | 0.214 | 0.297718772494 | gnomAD-4.0.0 | 6.39671E-05 | None | None | None | None | N | None | 0 | 8.38223E-05 | None | 0 | 7.13649E-04 | None | 0 | 0 | 5.43267E-05 | 0 | 3.21295E-05 |
| K/T | rs1404072291 |
None | 0.999 | N | 0.641 | 0.252 | 0.31411915649 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.77555E-04 |
| K/T | rs1404072291 |
None | 0.999 | N | 0.641 | 0.252 | 0.31411915649 | gnomAD-4.0.0 | 5.14775E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.20946E-06 | 0 | 2.86205E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5314 | ambiguous | 0.5478 | ambiguous | -0.182 | Destabilizing | 0.998 | D | 0.689 | prob.delet. | None | None | None | None | N |
| K/C | 0.7889 | likely_pathogenic | 0.8071 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| K/D | 0.854 | likely_pathogenic | 0.8523 | pathogenic | 0.205 | Stabilizing | 0.999 | D | 0.685 | prob.delet. | None | None | None | None | N |
| K/E | 0.3027 | likely_benign | 0.2906 | benign | 0.236 | Stabilizing | 0.997 | D | 0.691 | prob.delet. | N | 0.463287254 | None | None | N |
| K/F | 0.9252 | likely_pathogenic | 0.9252 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.671 | prob.neutral | None | None | None | None | N |
| K/G | 0.7391 | likely_pathogenic | 0.7499 | pathogenic | -0.441 | Destabilizing | 0.999 | D | 0.654 | prob.neutral | None | None | None | None | N |
| K/H | 0.5406 | ambiguous | 0.5555 | ambiguous | -0.826 | Destabilizing | 1.0 | D | 0.592 | neutral | None | None | None | None | N |
| K/I | 0.5101 | ambiguous | 0.5035 | ambiguous | 0.437 | Stabilizing | 0.999 | D | 0.693 | prob.delet. | N | 0.463754553 | None | None | N |
| K/L | 0.587 | likely_pathogenic | 0.5794 | pathogenic | 0.437 | Stabilizing | 0.999 | D | 0.654 | prob.neutral | None | None | None | None | N |
| K/M | 0.3766 | ambiguous | 0.3622 | ambiguous | 0.389 | Stabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | N |
| K/N | 0.7356 | likely_pathogenic | 0.7326 | pathogenic | 0.166 | Stabilizing | 0.999 | D | 0.699 | prob.delet. | N | 0.503294426 | None | None | N |
| K/P | 0.9808 | likely_pathogenic | 0.9763 | pathogenic | 0.261 | Stabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| K/Q | 0.2094 | likely_benign | 0.2124 | benign | -0.041 | Destabilizing | 0.999 | D | 0.731 | deleterious | N | 0.513339554 | None | None | N |
| K/R | 0.1023 | likely_benign | 0.1029 | benign | -0.136 | Destabilizing | 0.997 | D | 0.639 | neutral | N | 0.465641608 | None | None | N |
| K/S | 0.6697 | likely_pathogenic | 0.67 | pathogenic | -0.452 | Destabilizing | 0.998 | D | 0.723 | deleterious | None | None | None | None | N |
| K/T | 0.2809 | likely_benign | 0.273 | benign | -0.249 | Destabilizing | 0.999 | D | 0.641 | neutral | N | 0.519070661 | None | None | N |
| K/V | 0.3781 | ambiguous | 0.3842 | ambiguous | 0.261 | Stabilizing | 0.999 | D | 0.671 | prob.neutral | None | None | None | None | N |
| K/W | 0.9235 | likely_pathogenic | 0.9219 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.728 | deleterious | None | None | None | None | N |
| K/Y | 0.8654 | likely_pathogenic | 0.8653 | pathogenic | 0.158 | Stabilizing | 1.0 | D | 0.689 | prob.delet. | 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.