Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15996 | 48211;48212;48213 | chr2:178616903;178616902;178616901 | chr2:179481630;179481629;179481628 |
| N2AB | 14355 | 43288;43289;43290 | chr2:178616903;178616902;178616901 | chr2:179481630;179481629;179481628 |
| N2A | 13428 | 40507;40508;40509 | chr2:178616903;178616902;178616901 | chr2:179481630;179481629;179481628 |
| N2B | 6931 | 21016;21017;21018 | chr2:178616903;178616902;178616901 | chr2:179481630;179481629;179481628 |
| Novex-1 | 7056 | 21391;21392;21393 | chr2:178616903;178616902;178616901 | chr2:179481630;179481629;179481628 |
| Novex-2 | 7123 | 21592;21593;21594 | chr2:178616903;178616902;178616901 | chr2:179481630;179481629;179481628 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1324349099  |
-1.894 | 0.983 | D | 0.872 | 0.907 | 0.929092460382 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/R | rs1324349099 |
-1.894 | 0.983 | D | 0.872 | 0.907 | 0.929092460382 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9928 | likely_pathogenic | 0.9952 | pathogenic | -3.146 | Highly Destabilizing | 0.845 | D | 0.843 | deleterious | None | None | None | None | N |
| W/C | 0.9959 | likely_pathogenic | 0.9973 | pathogenic | -2.16 | Highly Destabilizing | 0.999 | D | 0.831 | deleterious | D | 0.677872116 | None | None | N |
| W/D | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -3.381 | Highly Destabilizing | 0.975 | D | 0.872 | deleterious | None | None | None | None | N |
| W/E | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -3.265 | Highly Destabilizing | 0.987 | D | 0.871 | deleterious | None | None | None | None | N |
| W/F | 0.5551 | ambiguous | 0.5639 | ambiguous | -1.943 | Destabilizing | 0.996 | D | 0.765 | deleterious | None | None | None | None | N |
| W/G | 0.9764 | likely_pathogenic | 0.9843 | pathogenic | -3.396 | Highly Destabilizing | 0.025 | N | 0.672 | neutral | D | 0.677847281 | None | None | N |
| W/H | 0.9964 | likely_pathogenic | 0.9972 | pathogenic | -2.316 | Highly Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | N |
| W/I | 0.9618 | likely_pathogenic | 0.9692 | pathogenic | -2.193 | Highly Destabilizing | 0.996 | D | 0.869 | deleterious | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.662 | Highly Destabilizing | 0.975 | D | 0.871 | deleterious | None | None | None | None | N |
| W/L | 0.9273 | likely_pathogenic | 0.9402 | pathogenic | -2.193 | Highly Destabilizing | 0.983 | D | 0.832 | deleterious | D | 0.677847281 | None | None | N |
| W/M | 0.9892 | likely_pathogenic | 0.9916 | pathogenic | -1.811 | Destabilizing | 0.999 | D | 0.778 | deleterious | None | None | None | None | N |
| W/N | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -3.373 | Highly Destabilizing | 0.975 | D | 0.871 | deleterious | None | None | None | None | N |
| W/P | 0.9975 | likely_pathogenic | 0.998 | pathogenic | -2.54 | Highly Destabilizing | 0.996 | D | 0.884 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -3.192 | Highly Destabilizing | 0.996 | D | 0.864 | deleterious | None | None | None | None | N |
| W/R | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -2.391 | Highly Destabilizing | 0.983 | D | 0.872 | deleterious | D | 0.677872116 | None | None | N |
| W/S | 0.9925 | likely_pathogenic | 0.9953 | pathogenic | -3.571 | Highly Destabilizing | 0.967 | D | 0.855 | deleterious | D | 0.677872116 | None | None | N |
| W/T | 0.9951 | likely_pathogenic | 0.9968 | pathogenic | -3.382 | Highly Destabilizing | 0.987 | D | 0.849 | deleterious | None | None | None | None | N |
| W/V | 0.9689 | likely_pathogenic | 0.9755 | pathogenic | -2.54 | Highly Destabilizing | 0.987 | D | 0.871 | deleterious | None | None | None | None | N |
| W/Y | 0.8951 | likely_pathogenic | 0.9094 | pathogenic | -1.83 | Destabilizing | 0.996 | D | 0.777 | 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.