Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16455 | 49588;49589;49590 | chr2:178613920;178613919;178613918 | chr2:179478647;179478646;179478645 |
| N2AB | 14814 | 44665;44666;44667 | chr2:178613920;178613919;178613918 | chr2:179478647;179478646;179478645 |
| N2A | 13887 | 41884;41885;41886 | chr2:178613920;178613919;178613918 | chr2:179478647;179478646;179478645 |
| N2B | 7390 | 22393;22394;22395 | chr2:178613920;178613919;178613918 | chr2:179478647;179478646;179478645 |
| Novex-1 | 7515 | 22768;22769;22770 | chr2:178613920;178613919;178613918 | chr2:179478647;179478646;179478645 |
| Novex-2 | 7582 | 22969;22970;22971 | chr2:178613920;178613919;178613918 | chr2:179478647;179478646;179478645 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs374543277  |
-0.706 | 0.954 | N | 0.603 | 0.197 | None | gnomAD-2.1.1 | 4.72E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.4E-05 | None | 0 | 9.49E-05 | 0 |
| T/A | rs374543277 |
-0.706 | 0.954 | N | 0.603 | 0.197 | None | gnomAD-3.1.2 | 8.56E-05 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.61936E-04 | 2.07555E-04 | 0 |
| T/A | rs374543277 |
-0.706 | 0.954 | N | 0.603 | 0.197 | None | gnomAD-4.0.0 | 1.10704E-04 | None | None | None | None | N | None | 0 | 1.6868E-05 | None | 0 | 0 | None | 0 | 0 | 1.45298E-04 | 4.43941E-05 | 3.21781E-05 |
| T/S | rs1189196149 |
-0.775 | 0.98 | N | 0.59 | 0.178 | 0.233150807113 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| T/S | rs1189196149 |
-0.775 | 0.98 | N | 0.59 | 0.178 | 0.233150807113 | gnomAD-4.0.0 | 1.60486E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88032E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1078 | likely_benign | 0.1012 | benign | -0.698 | Destabilizing | 0.954 | D | 0.603 | neutral | N | 0.482500658 | None | None | N |
| T/C | 0.3854 | ambiguous | 0.3541 | ambiguous | -0.457 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| T/D | 0.5508 | ambiguous | 0.547 | ambiguous | -0.856 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/E | 0.4129 | ambiguous | 0.4212 | ambiguous | -0.834 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/F | 0.3332 | likely_benign | 0.3161 | benign | -0.606 | Destabilizing | 0.942 | D | 0.775 | deleterious | None | None | None | None | N |
| T/G | 0.1968 | likely_benign | 0.1764 | benign | -0.993 | Destabilizing | 0.995 | D | 0.773 | deleterious | None | None | None | None | N |
| T/H | 0.3659 | ambiguous | 0.3444 | ambiguous | -1.376 | Destabilizing | 0.991 | D | 0.821 | deleterious | None | None | None | None | N |
| T/I | 0.242 | likely_benign | 0.2539 | benign | 0.005 | Stabilizing | 0.994 | D | 0.733 | prob.delet. | N | 0.486338709 | None | None | N |
| T/K | 0.2953 | likely_benign | 0.3117 | benign | -0.984 | Destabilizing | 0.996 | D | 0.741 | deleterious | None | None | None | None | N |
| T/L | 0.1204 | likely_benign | 0.1214 | benign | 0.005 | Stabilizing | 0.97 | D | 0.658 | neutral | None | None | None | None | N |
| T/M | 0.1322 | likely_benign | 0.1308 | benign | 0.313 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/N | 0.1756 | likely_benign | 0.176 | benign | -0.975 | Destabilizing | 0.998 | D | 0.583 | neutral | N | 0.48484779 | None | None | N |
| T/P | 0.3862 | ambiguous | 0.3711 | ambiguous | -0.197 | Destabilizing | 0.998 | D | 0.776 | deleterious | N | 0.484672499 | None | None | N |
| T/Q | 0.2869 | likely_benign | 0.2767 | benign | -1.103 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| T/R | 0.2747 | likely_benign | 0.2903 | benign | -0.794 | Destabilizing | 0.996 | D | 0.781 | deleterious | None | None | None | None | N |
| T/S | 0.1154 | likely_benign | 0.1062 | benign | -1.125 | Destabilizing | 0.98 | D | 0.59 | neutral | N | 0.449350883 | None | None | N |
| T/V | 0.159 | likely_benign | 0.153 | benign | -0.197 | Destabilizing | 0.97 | D | 0.576 | neutral | None | None | None | None | N |
| T/W | 0.7033 | likely_pathogenic | 0.6793 | pathogenic | -0.625 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| T/Y | 0.365 | ambiguous | 0.3528 | ambiguous | -0.392 | Destabilizing | 0.155 | N | 0.431 | 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.