Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24009 | 72250;72251;72252 | chr2:178574107;178574106;178574105 | chr2:179438834;179438833;179438832 |
| N2AB | 22368 | 67327;67328;67329 | chr2:178574107;178574106;178574105 | chr2:179438834;179438833;179438832 |
| N2A | 21441 | 64546;64547;64548 | chr2:178574107;178574106;178574105 | chr2:179438834;179438833;179438832 |
| N2B | 14944 | 45055;45056;45057 | chr2:178574107;178574106;178574105 | chr2:179438834;179438833;179438832 |
| Novex-1 | 15069 | 45430;45431;45432 | chr2:178574107;178574106;178574105 | chr2:179438834;179438833;179438832 |
| Novex-2 | 15136 | 45631;45632;45633 | chr2:178574107;178574106;178574105 | chr2:179438834;179438833;179438832 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs188711353  |
-1.221 | 0.999 | D | 0.709 | 0.296 | 0.353125101423 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| S/N | rs188711353 |
-1.221 | 0.999 | D | 0.709 | 0.296 | 0.353125101423 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85915E-06 | 0 | 0 |
| S/T | rs188711353 |
-0.721 | 0.999 | D | 0.703 | 0.313 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/T | rs188711353 |
-0.721 | 0.999 | D | 0.703 | 0.313 | None | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 5.65803E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6226 | likely_pathogenic | 0.6388 | pathogenic | -0.598 | Destabilizing | 0.998 | D | 0.684 | prob.neutral | None | None | None | None | N |
| S/C | 0.7902 | likely_pathogenic | 0.7977 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.544071612 | None | None | N |
| S/D | 0.9939 | likely_pathogenic | 0.9946 | pathogenic | -0.792 | Destabilizing | 0.999 | D | 0.756 | deleterious | None | None | None | None | N |
| S/E | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.678 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| S/F | 0.9915 | likely_pathogenic | 0.9925 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| S/G | 0.2908 | likely_benign | 0.3557 | ambiguous | -0.958 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | N | 0.457699442 | None | None | N |
| S/H | 0.9916 | likely_pathogenic | 0.991 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| S/I | 0.9853 | likely_pathogenic | 0.9887 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.889 | deleterious | D | 0.544325101 | None | None | N |
| S/K | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.623 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| S/L | 0.9385 | likely_pathogenic | 0.9469 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| S/M | 0.9794 | likely_pathogenic | 0.9843 | pathogenic | 0.233 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| S/N | 0.9744 | likely_pathogenic | 0.9761 | pathogenic | -0.946 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | D | 0.543057654 | None | None | N |
| S/P | 0.9911 | likely_pathogenic | 0.9917 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| S/Q | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| S/R | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.543311143 | None | None | N |
| S/T | 0.7576 | likely_pathogenic | 0.8079 | pathogenic | -0.742 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | D | 0.525206888 | None | None | N |
| S/V | 0.9825 | likely_pathogenic | 0.986 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| S/W | 0.9953 | likely_pathogenic | 0.9952 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| S/Y | 0.9908 | likely_pathogenic | 0.9907 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.905 | 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.