Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34969 | 105130;105131;105132 | chr2:178531710;178531709;178531708 | chr2:179396437;179396436;179396435 |
| N2AB | 33328 | 100207;100208;100209 | chr2:178531710;178531709;178531708 | chr2:179396437;179396436;179396435 |
| N2A | 32401 | 97426;97427;97428 | chr2:178531710;178531709;178531708 | chr2:179396437;179396436;179396435 |
| N2B | 25904 | 77935;77936;77937 | chr2:178531710;178531709;178531708 | chr2:179396437;179396436;179396435 |
| Novex-1 | 26029 | 78310;78311;78312 | chr2:178531710;178531709;178531708 | chr2:179396437;179396436;179396435 |
| Novex-2 | 26096 | 78511;78512;78513 | chr2:178531710;178531709;178531708 | chr2:179396437;179396436;179396435 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs2154133728  |
None | 1.0 | D | 0.807 | 0.752 | 0.809714403538 | gnomAD-4.0.0 | 4.77268E-06 | None | None | None | None | I | None | 0 | 6.85902E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1256480602 |
None | 1.0 | D | 0.763 | 0.759 | 0.75516907234 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs1256480602 |
None | 1.0 | D | 0.763 | 0.759 | 0.75516907234 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | I | None | 2.41324E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9279 | likely_pathogenic | 0.9332 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.533312003 | None | None | I |
| P/C | 0.9972 | likely_pathogenic | 0.998 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| P/D | 0.991 | likely_pathogenic | 0.9911 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/E | 0.9874 | likely_pathogenic | 0.9846 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/F | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| P/G | 0.9746 | likely_pathogenic | 0.9801 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| P/H | 0.9928 | likely_pathogenic | 0.9901 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| P/I | 0.9893 | likely_pathogenic | 0.9919 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| P/K | 0.995 | likely_pathogenic | 0.9932 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/L | 0.9681 | likely_pathogenic | 0.9702 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.602491845 | None | None | I |
| P/M | 0.9912 | likely_pathogenic | 0.9918 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| P/N | 0.9897 | likely_pathogenic | 0.9895 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| P/Q | 0.99 | likely_pathogenic | 0.9857 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.541705794 | None | None | I |
| P/R | 0.9903 | likely_pathogenic | 0.9852 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.618107598 | None | None | I |
| P/S | 0.9829 | likely_pathogenic | 0.9803 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.536425875 | None | None | I |
| P/T | 0.9611 | likely_pathogenic | 0.9606 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.585836711 | None | None | I |
| P/V | 0.9655 | likely_pathogenic | 0.9734 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| P/W | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| P/Y | 0.9969 | likely_pathogenic | 0.9965 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.834 | 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.