Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35129 | 105610;105611;105612 | chr2:178531230;178531229;178531228 | chr2:179395957;179395956;179395955 |
| N2AB | 33488 | 100687;100688;100689 | chr2:178531230;178531229;178531228 | chr2:179395957;179395956;179395955 |
| N2A | 32561 | 97906;97907;97908 | chr2:178531230;178531229;178531228 | chr2:179395957;179395956;179395955 |
| N2B | 26064 | 78415;78416;78417 | chr2:178531230;178531229;178531228 | chr2:179395957;179395956;179395955 |
| Novex-1 | 26189 | 78790;78791;78792 | chr2:178531230;178531229;178531228 | chr2:179395957;179395956;179395955 |
| Novex-2 | 26256 | 78991;78992;78993 | chr2:178531230;178531229;178531228 | chr2:179395957;179395956;179395955 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1688988300  |
None | 0.998 | N | 0.64 | 0.354 | 0.528712057427 | gnomAD-4.0.0 | 2.73655E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59759E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.908 | likely_pathogenic | 0.9051 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/D | 0.9909 | likely_pathogenic | 0.9923 | pathogenic | -2.43 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/E | 0.9819 | likely_pathogenic | 0.9848 | pathogenic | -2.448 | Highly Destabilizing | 0.999 | D | 0.78 | deleterious | N | 0.502733855 | None | None | N |
| A/F | 0.9879 | likely_pathogenic | 0.9907 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/G | 0.4653 | ambiguous | 0.4552 | ambiguous | -1.332 | Destabilizing | 0.998 | D | 0.64 | neutral | N | 0.503747813 | None | None | N |
| A/H | 0.9931 | likely_pathogenic | 0.9939 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/I | 0.9757 | likely_pathogenic | 0.9776 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/K | 0.995 | likely_pathogenic | 0.9958 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/L | 0.9181 | likely_pathogenic | 0.9282 | pathogenic | -0.563 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/M | 0.9643 | likely_pathogenic | 0.9719 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| A/N | 0.9809 | likely_pathogenic | 0.9805 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/P | 0.6731 | likely_pathogenic | 0.4765 | ambiguous | -0.702 | Destabilizing | 0.64 | D | 0.393 | neutral | N | 0.433700626 | None | None | N |
| A/Q | 0.9772 | likely_pathogenic | 0.9801 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/R | 0.981 | likely_pathogenic | 0.9858 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/S | 0.2957 | likely_benign | 0.2944 | benign | -1.537 | Destabilizing | 0.998 | D | 0.628 | neutral | N | 0.502987344 | None | None | N |
| A/T | 0.7115 | likely_pathogenic | 0.7393 | pathogenic | -1.482 | Destabilizing | 0.999 | D | 0.745 | deleterious | N | 0.492138018 | None | None | N |
| A/V | 0.8459 | likely_pathogenic | 0.8623 | pathogenic | -0.702 | Destabilizing | 0.998 | D | 0.678 | prob.neutral | N | 0.485554652 | None | None | N |
| A/W | 0.9979 | likely_pathogenic | 0.9984 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/Y | 0.9938 | likely_pathogenic | 0.9948 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.803 | 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.