Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16379 | 49360;49361;49362 | chr2:178614262;178614261;178614260 | chr2:179478989;179478988;179478987 |
| N2AB | 14738 | 44437;44438;44439 | chr2:178614262;178614261;178614260 | chr2:179478989;179478988;179478987 |
| N2A | 13811 | 41656;41657;41658 | chr2:178614262;178614261;178614260 | chr2:179478989;179478988;179478987 |
| N2B | 7314 | 22165;22166;22167 | chr2:178614262;178614261;178614260 | chr2:179478989;179478988;179478987 |
| Novex-1 | 7439 | 22540;22541;22542 | chr2:178614262;178614261;178614260 | chr2:179478989;179478988;179478987 |
| Novex-2 | 7506 | 22741;22742;22743 | chr2:178614262;178614261;178614260 | chr2:179478989;179478988;179478987 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1355270834  |
-0.421 | 1.0 | D | 0.837 | 0.483 | 0.403040389579 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| G/D | rs1355270834 |
-0.421 | 1.0 | D | 0.837 | 0.483 | 0.403040389579 | gnomAD-4.0.0 | 2.05382E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79956E-06 | 0 | 1.65848E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.986 | likely_pathogenic | 0.9751 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.689501786 | None | None | I |
| G/C | 0.9964 | likely_pathogenic | 0.9931 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.78781246 | None | None | I |
| G/D | 0.9992 | likely_pathogenic | 0.9984 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.666291562 | None | None | I |
| G/E | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/F | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/H | 0.9997 | likely_pathogenic | 0.9993 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/K | 0.9994 | likely_pathogenic | 0.9988 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/L | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/M | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/N | 0.9994 | likely_pathogenic | 0.9987 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/Q | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/R | 0.9975 | likely_pathogenic | 0.9952 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.663895179 | None | None | I |
| G/S | 0.9874 | likely_pathogenic | 0.9755 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.661537813 | None | None | I |
| G/T | 0.9985 | likely_pathogenic | 0.9973 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/V | 0.9991 | likely_pathogenic | 0.9983 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.720603667 | None | None | I |
| G/W | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Y | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
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.