Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16357 | 49294;49295;49296 | chr2:178614328;178614327;178614326 | chr2:179479055;179479054;179479053 |
| N2AB | 14716 | 44371;44372;44373 | chr2:178614328;178614327;178614326 | chr2:179479055;179479054;179479053 |
| N2A | 13789 | 41590;41591;41592 | chr2:178614328;178614327;178614326 | chr2:179479055;179479054;179479053 |
| N2B | 7292 | 22099;22100;22101 | chr2:178614328;178614327;178614326 | chr2:179479055;179479054;179479053 |
| Novex-1 | 7417 | 22474;22475;22476 | chr2:178614328;178614327;178614326 | chr2:179479055;179479054;179479053 |
| Novex-2 | 7484 | 22675;22676;22677 | chr2:178614328;178614327;178614326 | chr2:179479055;179479054;179479053 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs773210401  |
-0.367 | 1.0 | N | 0.584 | 0.207 | 0.351830644314 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| A/S | rs773210401 |
-0.367 | 1.0 | N | 0.584 | 0.207 | 0.351830644314 | gnomAD-4.0.0 | 1.59361E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43427E-05 | 0 |
| A/V | rs199768159 |
0.117 | 1.0 | N | 0.691 | 0.331 | None | gnomAD-2.1.1 | 2.52E-05 | None | None | None | None | N | None | 1.6603E-04 | 0 | None | 2.92056E-04 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs199768159 |
0.117 | 1.0 | N | 0.691 | 0.331 | None | gnomAD-3.1.2 | 7.9E-05 | None | None | None | None | N | None | 2.89897E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs199768159 |
0.117 | 1.0 | N | 0.691 | 0.331 | None | gnomAD-4.0.0 | 1.7365E-05 | None | None | None | None | N | None | 2.27236E-04 | 0 | None | 3.04404E-04 | 0 | None | 0 | 0 | 8.48012E-07 | 0 | 1.60287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7055 | likely_pathogenic | 0.6796 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/D | 0.7844 | likely_pathogenic | 0.766 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.469655475 | None | None | N |
| A/E | 0.8207 | likely_pathogenic | 0.7991 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/F | 0.7174 | likely_pathogenic | 0.6918 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/G | 0.2949 | likely_benign | 0.2858 | benign | -0.506 | Destabilizing | 1.0 | D | 0.6 | neutral | N | 0.467350279 | None | None | N |
| A/H | 0.8534 | likely_pathogenic | 0.8375 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/I | 0.7766 | likely_pathogenic | 0.7424 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/K | 0.9317 | likely_pathogenic | 0.9162 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/L | 0.5103 | ambiguous | 0.4755 | ambiguous | -0.33 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| A/M | 0.6234 | likely_pathogenic | 0.5803 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/N | 0.5053 | ambiguous | 0.4983 | ambiguous | -0.417 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/P | 0.8232 | likely_pathogenic | 0.7897 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.458990546 | None | None | N |
| A/Q | 0.7474 | likely_pathogenic | 0.7123 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/R | 0.8761 | likely_pathogenic | 0.8543 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/S | 0.1477 | likely_benign | 0.145 | benign | -0.669 | Destabilizing | 1.0 | D | 0.584 | neutral | N | 0.471126638 | None | None | N |
| A/T | 0.3228 | likely_benign | 0.2935 | benign | -0.707 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.48077051 | None | None | N |
| A/V | 0.4984 | ambiguous | 0.4612 | ambiguous | -0.319 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.481150404 | None | None | N |
| A/W | 0.9686 | likely_pathogenic | 0.9618 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/Y | 0.8222 | likely_pathogenic | 0.7966 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.839 | 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.