Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32126 | 96601;96602;96603 | chr2:178543597;178543596;178543595 | chr2:179408324;179408323;179408322 |
| N2AB | 30485 | 91678;91679;91680 | chr2:178543597;178543596;178543595 | chr2:179408324;179408323;179408322 |
| N2A | 29558 | 88897;88898;88899 | chr2:178543597;178543596;178543595 | chr2:179408324;179408323;179408322 |
| N2B | 23061 | 69406;69407;69408 | chr2:178543597;178543596;178543595 | chr2:179408324;179408323;179408322 |
| Novex-1 | 23186 | 69781;69782;69783 | chr2:178543597;178543596;178543595 | chr2:179408324;179408323;179408322 |
| Novex-2 | 23253 | 69982;69983;69984 | chr2:178543597;178543596;178543595 | chr2:179408324;179408323;179408322 |
| 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/C | rs794729542  |
None | 1.0 | D | 0.835 | 0.834 | 0.820208211037 | gnomAD-4.0.0 | 6.8766E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6581E-05 |
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 | 0.9956 | likely_pathogenic | 0.9933 | pathogenic | -3.246 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| W/C | 0.9974 | likely_pathogenic | 0.996 | pathogenic | -1.858 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.646676313 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.514 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.412 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/F | 0.7882 | likely_pathogenic | 0.7675 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/G | 0.9806 | likely_pathogenic | 0.9693 | pathogenic | -3.472 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.646676313 | None | None | N |
| W/H | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/I | 0.9951 | likely_pathogenic | 0.9939 | pathogenic | -2.374 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.562 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/L | 0.9847 | likely_pathogenic | 0.9814 | pathogenic | -2.374 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.645465487 | None | None | N |
| W/M | 0.995 | likely_pathogenic | 0.9933 | pathogenic | -1.81 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.25 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.693 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.139 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -2.159 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.646676313 | None | None | N |
| W/S | 0.9946 | likely_pathogenic | 0.9906 | pathogenic | -3.407 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.646676313 | None | None | N |
| W/T | 0.9972 | likely_pathogenic | 0.9958 | pathogenic | -3.239 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/V | 0.993 | likely_pathogenic | 0.9911 | pathogenic | -2.693 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/Y | 0.9583 | likely_pathogenic | 0.9494 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.854 | 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.