Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14041 | 42346;42347;42348 | chr2:178634753;178634752;178634751 | chr2:179499480;179499479;179499478 |
| N2AB | 12400 | 37423;37424;37425 | chr2:178634753;178634752;178634751 | chr2:179499480;179499479;179499478 |
| N2A | 11473 | 34642;34643;34644 | chr2:178634753;178634752;178634751 | chr2:179499480;179499479;179499478 |
| N2B | 4976 | 15151;15152;15153 | chr2:178634753;178634752;178634751 | chr2:179499480;179499479;179499478 |
| Novex-1 | 5101 | 15526;15527;15528 | chr2:178634753;178634752;178634751 | chr2:179499480;179499479;179499478 |
| Novex-2 | 5168 | 15727;15728;15729 | chr2:178634753;178634752;178634751 | chr2:179499480;179499479;179499478 |
| 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/V | rs1174010742  |
-0.137 | 0.999 | N | 0.675 | 0.318 | 0.37953744168 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs1174010742 |
-0.137 | 0.999 | N | 0.675 | 0.318 | 0.37953744168 | gnomAD-4.0.0 | 3.18534E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86107E-06 | 1.43377E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7406 | likely_pathogenic | 0.6641 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/D | 0.9721 | likely_pathogenic | 0.9466 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/E | 0.9682 | likely_pathogenic | 0.9169 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.496793904 | None | None | N |
| A/F | 0.9354 | likely_pathogenic | 0.8987 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/G | 0.4441 | ambiguous | 0.3421 | ambiguous | -1.306 | Destabilizing | 0.999 | D | 0.56 | neutral | N | 0.459541886 | None | None | N |
| A/H | 0.9543 | likely_pathogenic | 0.9242 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/I | 0.8909 | likely_pathogenic | 0.7402 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/K | 0.9831 | likely_pathogenic | 0.9538 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/L | 0.8399 | likely_pathogenic | 0.718 | pathogenic | -0.229 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/M | 0.8803 | likely_pathogenic | 0.735 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/N | 0.9195 | likely_pathogenic | 0.8374 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| A/P | 0.9942 | likely_pathogenic | 0.9896 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.498436562 | None | None | N |
| A/Q | 0.9277 | likely_pathogenic | 0.8501 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/R | 0.9578 | likely_pathogenic | 0.92 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/S | 0.3228 | likely_benign | 0.2179 | benign | -1.487 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.418765835 | None | None | N |
| A/T | 0.5566 | ambiguous | 0.3074 | benign | -1.362 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.414933724 | None | None | N |
| A/V | 0.6612 | likely_pathogenic | 0.4048 | ambiguous | -0.438 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.433956475 | None | None | N |
| A/W | 0.9941 | likely_pathogenic | 0.9902 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.698 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9569 | likely_pathogenic | 0.938 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.794 | 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.