Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10135 | 30628;30629;30630 | chr2:178702484;178702483;178702482 | chr2:179567211;179567210;179567209 |
| N2AB | 9818 | 29677;29678;29679 | chr2:178702484;178702483;178702482 | chr2:179567211;179567210;179567209 |
| N2A | 8891 | 26896;26897;26898 | chr2:178702484;178702483;178702482 | chr2:179567211;179567210;179567209 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs138493804  |
-0.56 | 0.134 | None | 0.467 | 0.247 | None | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| T/I | rs138493804 |
-0.56 | 0.134 | None | 0.467 | 0.247 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs138493804 |
-0.56 | 0.134 | None | 0.467 | 0.247 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| T/I | rs138493804 |
-0.56 | 0.134 | None | 0.467 | 0.247 | None | gnomAD-4.0.0 | 1.30117E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.77987E-05 | 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 | 0.6017 | likely_pathogenic | 0.733 | pathogenic | -0.879 | Destabilizing | 0.826 | D | 0.659 | neutral | None | None | None | None | N |
| T/C | 0.9362 | likely_pathogenic | 0.9732 | pathogenic | -0.8 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/D | 0.9533 | likely_pathogenic | 0.9728 | pathogenic | -1.808 | Destabilizing | 0.997 | D | 0.769 | deleterious | None | None | None | None | N |
| T/E | 0.8788 | likely_pathogenic | 0.9348 | pathogenic | -1.67 | Destabilizing | 0.997 | D | 0.773 | deleterious | None | None | None | None | N |
| T/F | 0.9042 | likely_pathogenic | 0.9509 | pathogenic | -0.611 | Destabilizing | 0.991 | D | 0.745 | deleterious | None | None | None | None | N |
| T/G | 0.9408 | likely_pathogenic | 0.9625 | pathogenic | -1.25 | Destabilizing | 0.99 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/H | 0.8517 | likely_pathogenic | 0.9204 | pathogenic | -1.532 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/I | 0.584 | likely_pathogenic | 0.7392 | pathogenic | 0.065 | Stabilizing | 0.134 | N | 0.467 | neutral | None | None | None | None | N |
| T/K | 0.8549 | likely_pathogenic | 0.921 | pathogenic | -0.828 | Destabilizing | 0.997 | D | 0.77 | deleterious | None | None | None | None | N |
| T/L | 0.6037 | likely_pathogenic | 0.7369 | pathogenic | 0.065 | Stabilizing | 0.759 | D | 0.642 | neutral | None | None | None | None | N |
| T/M | 0.3591 | ambiguous | 0.5305 | ambiguous | 0.207 | Stabilizing | 0.991 | D | 0.749 | deleterious | None | None | None | None | N |
| T/N | 0.7233 | likely_pathogenic | 0.8217 | pathogenic | -1.412 | Destabilizing | 0.996 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/P | 0.9866 | likely_pathogenic | 0.9892 | pathogenic | -0.218 | Destabilizing | 0.996 | D | 0.769 | deleterious | None | None | None | None | N |
| T/Q | 0.7842 | likely_pathogenic | 0.8758 | pathogenic | -1.32 | Destabilizing | 0.997 | D | 0.764 | deleterious | None | None | None | None | N |
| T/R | 0.8253 | likely_pathogenic | 0.8989 | pathogenic | -0.876 | Destabilizing | 0.997 | D | 0.769 | deleterious | None | None | None | None | N |
| T/S | 0.6672 | likely_pathogenic | 0.7823 | pathogenic | -1.485 | Destabilizing | 0.959 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/V | 0.421 | ambiguous | 0.5533 | ambiguous | -0.218 | Destabilizing | 0.079 | N | 0.299 | neutral | None | None | None | None | N |
| T/W | 0.9714 | likely_pathogenic | 0.9872 | pathogenic | -0.814 | Destabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| T/Y | 0.9076 | likely_pathogenic | 0.9528 | pathogenic | -0.447 | Destabilizing | 0.997 | D | 0.745 | 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.