Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35704 | 107335;107336;107337 | chr2:178528641;178528640;178528639 | chr2:179393368;179393367;179393366 |
| N2AB | 34063 | 102412;102413;102414 | chr2:178528641;178528640;178528639 | chr2:179393368;179393367;179393366 |
| N2A | 33136 | 99631;99632;99633 | chr2:178528641;178528640;178528639 | chr2:179393368;179393367;179393366 |
| N2B | 26639 | 80140;80141;80142 | chr2:178528641;178528640;178528639 | chr2:179393368;179393367;179393366 |
| Novex-1 | 26764 | 80515;80516;80517 | chr2:178528641;178528640;178528639 | chr2:179393368;179393367;179393366 |
| Novex-2 | 26831 | 80716;80717;80718 | chr2:178528641;178528640;178528639 | chr2:179393368;179393367;179393366 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs1422086577  |
-2.4 | 0.999 | D | 0.804 | 0.888 | 0.88716126678 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| F/S | rs1422086577 |
-2.4 | 0.999 | D | 0.804 | 0.888 | 0.88716126678 | gnomAD-4.0.0 | 4.78074E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58462E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9725 | likely_pathogenic | 0.9809 | pathogenic | -2.592 | Highly Destabilizing | 0.996 | D | 0.763 | deleterious | None | None | None | None | N |
| F/C | 0.9412 | likely_pathogenic | 0.9433 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.553907792 | None | None | N |
| F/D | 0.9957 | likely_pathogenic | 0.9975 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/E | 0.9953 | likely_pathogenic | 0.997 | pathogenic | -1.685 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/G | 0.9926 | likely_pathogenic | 0.9951 | pathogenic | -2.964 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/H | 0.983 | likely_pathogenic | 0.9876 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| F/I | 0.5798 | likely_pathogenic | 0.5748 | pathogenic | -1.434 | Destabilizing | 0.733 | D | 0.468 | neutral | N | 0.458679216 | None | None | N |
| F/K | 0.9964 | likely_pathogenic | 0.9976 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/L | 0.9671 | likely_pathogenic | 0.9675 | pathogenic | -1.434 | Destabilizing | 0.948 | D | 0.627 | neutral | N | 0.504515643 | None | None | N |
| F/M | 0.8979 | likely_pathogenic | 0.9008 | pathogenic | -1.067 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| F/N | 0.9865 | likely_pathogenic | 0.9909 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/P | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/Q | 0.9939 | likely_pathogenic | 0.9961 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/R | 0.9909 | likely_pathogenic | 0.9942 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/S | 0.974 | likely_pathogenic | 0.9838 | pathogenic | -2.27 | Highly Destabilizing | 0.999 | D | 0.804 | deleterious | D | 0.542044507 | None | None | N |
| F/T | 0.9783 | likely_pathogenic | 0.9839 | pathogenic | -2.061 | Highly Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| F/V | 0.6633 | likely_pathogenic | 0.6668 | pathogenic | -1.82 | Destabilizing | 0.978 | D | 0.651 | neutral | D | 0.533641121 | None | None | N |
| F/W | 0.905 | likely_pathogenic | 0.9188 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| F/Y | 0.6078 | likely_pathogenic | 0.6445 | pathogenic | -0.786 | Destabilizing | 0.998 | D | 0.63 | neutral | D | 0.542297997 | 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.