Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8250 | 24973;24974;24975 | chr2:178718358;178718357;178718356 | chr2:179583085;179583084;179583083 |
| N2AB | 7933 | 24022;24023;24024 | chr2:178718358;178718357;178718356 | chr2:179583085;179583084;179583083 |
| N2A | 7006 | 21241;21242;21243 | chr2:178718358;178718357;178718356 | chr2:179583085;179583084;179583083 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs1311136102  |
-0.155 | 1.0 | D | 0.739 | 0.575 | 0.59904029974 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| G/A | rs1311136102 |
-0.155 | 1.0 | D | 0.739 | 0.575 | 0.59904029974 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs1311136102 |
-0.155 | 1.0 | D | 0.739 | 0.575 | 0.59904029974 | gnomAD-4.0.0 | 3.84371E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18006E-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 | 0.7419 | likely_pathogenic | 0.5426 | ambiguous | -0.311 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.621498986 | None | None | I |
| G/C | 0.9366 | likely_pathogenic | 0.8491 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.638729173 | None | None | I |
| G/D | 0.8873 | likely_pathogenic | 0.7925 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.621095378 | None | None | I |
| G/E | 0.911 | likely_pathogenic | 0.8257 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/F | 0.9783 | likely_pathogenic | 0.9527 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/H | 0.9649 | likely_pathogenic | 0.9298 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/I | 0.9776 | likely_pathogenic | 0.939 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/K | 0.9507 | likely_pathogenic | 0.9092 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/L | 0.9693 | likely_pathogenic | 0.9296 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/M | 0.9795 | likely_pathogenic | 0.9469 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/N | 0.9145 | likely_pathogenic | 0.8422 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9969 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/Q | 0.9179 | likely_pathogenic | 0.8356 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/R | 0.8872 | likely_pathogenic | 0.8056 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.637720152 | None | None | I |
| G/S | 0.5704 | likely_pathogenic | 0.3879 | ambiguous | -0.508 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.611374823 | None | None | I |
| G/T | 0.9109 | likely_pathogenic | 0.8021 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/V | 0.9516 | likely_pathogenic | 0.8819 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.622306204 | None | None | I |
| G/W | 0.968 | likely_pathogenic | 0.937 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Y | 0.9671 | likely_pathogenic | 0.9318 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.844 | 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.