Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13848 | 41767;41768;41769 | chr2:178636029;178636028;178636027 | chr2:179500756;179500755;179500754 |
| N2AB | 12207 | 36844;36845;36846 | chr2:178636029;178636028;178636027 | chr2:179500756;179500755;179500754 |
| N2A | 11280 | 34063;34064;34065 | chr2:178636029;178636028;178636027 | chr2:179500756;179500755;179500754 |
| N2B | 4783 | 14572;14573;14574 | chr2:178636029;178636028;178636027 | chr2:179500756;179500755;179500754 |
| Novex-1 | 4908 | 14947;14948;14949 | chr2:178636029;178636028;178636027 | chr2:179500756;179500755;179500754 |
| Novex-2 | 4975 | 15148;15149;15150 | chr2:178636029;178636028;178636027 | chr2:179500756;179500755;179500754 |
| 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/E | None | None | 0.999 | D | 0.884 | 0.346 | 0.298056030225 | gnomAD-4.0.0 | 1.36902E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79957E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8099 | likely_pathogenic | 0.7285 | pathogenic | -0.651 | Destabilizing | 0.604 | D | 0.548 | neutral | N | 0.368834867 | None | None | N |
| G/C | 0.9838 | likely_pathogenic | 0.9703 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/D | 0.986 | likely_pathogenic | 0.9811 | pathogenic | -0.995 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| G/E | 0.9951 | likely_pathogenic | 0.9922 | pathogenic | -1.092 | Destabilizing | 0.999 | D | 0.884 | deleterious | D | 0.550592949 | None | None | N |
| G/F | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/H | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/I | 0.9988 | likely_pathogenic | 0.9978 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/K | 0.9983 | likely_pathogenic | 0.9973 | pathogenic | -1.179 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| G/L | 0.9976 | likely_pathogenic | 0.9961 | pathogenic | -0.407 | Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| G/M | 0.9986 | likely_pathogenic | 0.9973 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/N | 0.9954 | likely_pathogenic | 0.9922 | pathogenic | -0.781 | Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -0.448 | Destabilizing | 0.999 | D | 0.874 | deleterious | None | None | None | None | N |
| G/Q | 0.9964 | likely_pathogenic | 0.9936 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/R | 0.9943 | likely_pathogenic | 0.992 | pathogenic | -0.801 | Destabilizing | 0.999 | D | 0.88 | deleterious | D | 0.551640617 | None | None | N |
| G/S | 0.9048 | likely_pathogenic | 0.8428 | pathogenic | -1.009 | Destabilizing | 0.998 | D | 0.698 | prob.delet. | None | None | None | None | N |
| G/T | 0.9928 | likely_pathogenic | 0.9846 | pathogenic | -1.027 | Destabilizing | 0.999 | D | 0.875 | deleterious | None | None | None | None | N |
| G/V | 0.9957 | likely_pathogenic | 0.9922 | pathogenic | -0.448 | Destabilizing | 0.997 | D | 0.849 | deleterious | D | 0.552552726 | None | None | N |
| G/W | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| G/Y | 0.999 | likely_pathogenic | 0.9983 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.849 | 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.