Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22254 | 66985;66986;66987 | chr2:178581508;178581507;178581506 | chr2:179446235;179446234;179446233 |
| N2AB | 20613 | 62062;62063;62064 | chr2:178581508;178581507;178581506 | chr2:179446235;179446234;179446233 |
| N2A | 19686 | 59281;59282;59283 | chr2:178581508;178581507;178581506 | chr2:179446235;179446234;179446233 |
| N2B | 13189 | 39790;39791;39792 | chr2:178581508;178581507;178581506 | chr2:179446235;179446234;179446233 |
| Novex-1 | 13314 | 40165;40166;40167 | chr2:178581508;178581507;178581506 | chr2:179446235;179446234;179446233 |
| Novex-2 | 13381 | 40366;40367;40368 | chr2:178581508;178581507;178581506 | chr2:179446235;179446234;179446233 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs756359190  |
0.358 | 0.974 | N | 0.765 | 0.441 | None | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 6.5E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs756359190 |
0.358 | 0.974 | N | 0.765 | 0.441 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs756359190 |
0.358 | 0.974 | N | 0.765 | 0.441 | None | gnomAD-4.0.0 | 3.93266E-06 | None | None | None | None | N | None | 1.70097E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.45704E-06 | 1.39063E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8806 | likely_pathogenic | 0.9084 | pathogenic | -0.141 | Destabilizing | 0.974 | D | 0.585 | neutral | D | 0.523978701 | None | None | N |
| D/C | 0.9878 | likely_pathogenic | 0.9916 | pathogenic | 0.015 | Stabilizing | 0.999 | D | 0.84 | deleterious | None | None | None | None | N |
| D/E | 0.46 | ambiguous | 0.4941 | ambiguous | -0.225 | Destabilizing | 0.032 | N | 0.349 | neutral | N | 0.487823113 | None | None | N |
| D/F | 0.9905 | likely_pathogenic | 0.9911 | pathogenic | -0.15 | Destabilizing | 0.999 | D | 0.776 | deleterious | None | None | None | None | N |
| D/G | 0.9013 | likely_pathogenic | 0.9232 | pathogenic | -0.296 | Destabilizing | 0.914 | D | 0.713 | prob.delet. | N | 0.520094549 | None | None | N |
| D/H | 0.957 | likely_pathogenic | 0.9675 | pathogenic | 0.185 | Stabilizing | 0.996 | D | 0.823 | deleterious | N | 0.497724333 | None | None | N |
| D/I | 0.9716 | likely_pathogenic | 0.9758 | pathogenic | 0.207 | Stabilizing | 0.99 | D | 0.781 | deleterious | None | None | None | None | N |
| D/K | 0.9709 | likely_pathogenic | 0.977 | pathogenic | 0.429 | Stabilizing | 0.961 | D | 0.726 | deleterious | None | None | None | None | N |
| D/L | 0.964 | likely_pathogenic | 0.968 | pathogenic | 0.207 | Stabilizing | 0.98 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/M | 0.9873 | likely_pathogenic | 0.9894 | pathogenic | 0.207 | Stabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| D/N | 0.6012 | likely_pathogenic | 0.6575 | pathogenic | 0.157 | Stabilizing | 0.974 | D | 0.765 | deleterious | N | 0.498507574 | None | None | N |
| D/P | 0.9758 | likely_pathogenic | 0.9824 | pathogenic | 0.112 | Stabilizing | 0.99 | D | 0.764 | deleterious | None | None | None | None | N |
| D/Q | 0.9529 | likely_pathogenic | 0.9634 | pathogenic | 0.179 | Stabilizing | 0.961 | D | 0.793 | deleterious | None | None | None | None | N |
| D/R | 0.9795 | likely_pathogenic | 0.9839 | pathogenic | 0.594 | Stabilizing | 0.98 | D | 0.721 | deleterious | None | None | None | None | N |
| D/S | 0.853 | likely_pathogenic | 0.8867 | pathogenic | 0.064 | Stabilizing | 0.933 | D | 0.691 | prob.delet. | None | None | None | None | N |
| D/T | 0.9474 | likely_pathogenic | 0.96 | pathogenic | 0.188 | Stabilizing | 0.98 | D | 0.761 | deleterious | None | None | None | None | N |
| D/V | 0.9143 | likely_pathogenic | 0.9264 | pathogenic | 0.112 | Stabilizing | 0.987 | D | 0.708 | prob.delet. | N | 0.509498712 | None | None | N |
| D/W | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -0.058 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| D/Y | 0.9029 | likely_pathogenic | 0.9135 | pathogenic | 0.081 | Stabilizing | 0.999 | D | 0.784 | deleterious | N | 0.514360557 | 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.