Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35021 | 105286;105287;105288 | chr2:178531554;178531553;178531552 | chr2:179396281;179396280;179396279 |
| N2AB | 33380 | 100363;100364;100365 | chr2:178531554;178531553;178531552 | chr2:179396281;179396280;179396279 |
| N2A | 32453 | 97582;97583;97584 | chr2:178531554;178531553;178531552 | chr2:179396281;179396280;179396279 |
| N2B | 25956 | 78091;78092;78093 | chr2:178531554;178531553;178531552 | chr2:179396281;179396280;179396279 |
| Novex-1 | 26081 | 78466;78467;78468 | chr2:178531554;178531553;178531552 | chr2:179396281;179396280;179396279 |
| Novex-2 | 26148 | 78667;78668;78669 | chr2:178531554;178531553;178531552 | chr2:179396281;179396280;179396279 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1454215134  |
None | 1.0 | D | 0.818 | 0.835 | 0.526641945673 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 1.01626E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8592 | likely_pathogenic | 0.9572 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.619873834 | None | None | I |
| G/C | 0.9838 | likely_pathogenic | 0.9949 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.62108466 | None | None | I |
| G/D | 0.971 | likely_pathogenic | 0.99 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.587199339 | None | None | I |
| G/E | 0.9776 | likely_pathogenic | 0.9921 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/F | 0.9974 | likely_pathogenic | 0.9988 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/H | 0.9969 | likely_pathogenic | 0.9991 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/I | 0.9961 | likely_pathogenic | 0.998 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/K | 0.9955 | likely_pathogenic | 0.9979 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/L | 0.9944 | likely_pathogenic | 0.9974 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/M | 0.9953 | likely_pathogenic | 0.9981 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/N | 0.98 | likely_pathogenic | 0.9942 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/Q | 0.9888 | likely_pathogenic | 0.9966 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/R | 0.9896 | likely_pathogenic | 0.9957 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.574803531 | None | None | I |
| G/S | 0.8233 | likely_pathogenic | 0.9491 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.60324906 | None | None | I |
| G/T | 0.9715 | likely_pathogenic | 0.9895 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.9881 | likely_pathogenic | 0.994 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.620681051 | None | None | I |
| G/W | 0.9942 | likely_pathogenic | 0.9971 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/Y | 0.9944 | likely_pathogenic | 0.9976 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
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.