Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1011 | 3256;3257;3258 | chr2:178782875;178782874;178782873 | chr2:179647602;179647601;179647600 |
| N2AB | 1011 | 3256;3257;3258 | chr2:178782875;178782874;178782873 | chr2:179647602;179647601;179647600 |
| N2A | 1011 | 3256;3257;3258 | chr2:178782875;178782874;178782873 | chr2:179647602;179647601;179647600 |
| N2B | 965 | 3118;3119;3120 | chr2:178782875;178782874;178782873 | chr2:179647602;179647601;179647600 |
| Novex-1 | 965 | 3118;3119;3120 | chr2:178782875;178782874;178782873 | chr2:179647602;179647601;179647600 |
| Novex-2 | 965 | 3118;3119;3120 | chr2:178782875;178782874;178782873 | chr2:179647602;179647601;179647600 |
| Novex-3 | 1011 | 3256;3257;3258 | chr2:178782875;178782874;178782873 | chr2:179647602;179647601;179647600 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs397517546  |
-0.471 | 1.0 | D | 0.825 | 0.678 | 0.917794436807 | gnomAD-2.1.1 | 1.99E-05 | None | None | None | None | N | None | 0 | 8.68E-05 | None | 0 | 5.45E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs397517546 |
-0.471 | 1.0 | D | 0.825 | 0.678 | 0.917794436807 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs397517546 |
-0.471 | 1.0 | D | 0.825 | 0.678 | 0.917794436807 | gnomAD-4.0.0 | 9.29422E-06 | None | None | None | None | N | None | 0 | 5.0005E-05 | None | 0 | 2.22886E-05 | None | 0 | 0 | 8.47491E-06 | 1.09786E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9222 | likely_pathogenic | 0.9307 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.5373307 | None | None | N |
| G/C | 0.9928 | likely_pathogenic | 0.9943 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/D | 0.9945 | likely_pathogenic | 0.995 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/E | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.80410926 | None | None | N |
| G/F | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/I | 0.9987 | likely_pathogenic | 0.999 | pathogenic | 0.338 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/K | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/L | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | 0.338 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/M | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/N | 0.9969 | likely_pathogenic | 0.9972 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | 0.142 | Stabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/Q | 0.9967 | likely_pathogenic | 0.9971 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/R | 0.9954 | likely_pathogenic | 0.9962 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.80410926 | None | None | N |
| G/S | 0.9095 | likely_pathogenic | 0.9203 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/T | 0.9934 | likely_pathogenic | 0.9945 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/V | 0.996 | likely_pathogenic | 0.9969 | pathogenic | 0.142 | Stabilizing | 1.0 | D | 0.813 | deleterious | D | 0.772149114 | None | None | N |
| G/W | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.803509997 | None | None | N |
| G/Y | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.775 | 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.