Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 186 | 781;782;783 | chr2:178800422;178800421;178800420 | chr2:179665149;179665148;179665147 |
| N2AB | 186 | 781;782;783 | chr2:178800422;178800421;178800420 | chr2:179665149;179665148;179665147 |
| N2A | 186 | 781;782;783 | chr2:178800422;178800421;178800420 | chr2:179665149;179665148;179665147 |
| N2B | 186 | 781;782;783 | chr2:178800422;178800421;178800420 | chr2:179665149;179665148;179665147 |
| Novex-1 | 186 | 781;782;783 | chr2:178800422;178800421;178800420 | chr2:179665149;179665148;179665147 |
| Novex-2 | 186 | 781;782;783 | chr2:178800422;178800421;178800420 | chr2:179665149;179665148;179665147 |
| Novex-3 | 186 | 781;782;783 | chr2:178800422;178800421;178800420 | chr2:179665149;179665148;179665147 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1486250871  |
None | 0.985 | N | 0.441 | 0.403 | 0.287603790349 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.586(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs1486250871 |
None | 0.985 | N | 0.441 | 0.403 | 0.287603790349 | gnomAD-4.0.0 | 6.5697E-06 | None | None | None | -0.586(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-05 | 0 | 0 |
| T/S | rs1184900499 |
None | 0.992 | N | 0.406 | 0.316 | 0.229264304666 | gnomAD-4.0.0 | 1.59047E-06 | None | None | None | -0.975(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85654E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1656 | likely_benign | 0.1614 | benign | -0.699 | Destabilizing | 0.985 | D | 0.441 | neutral | N | 0.481108682 | None | -0.586(TCAP) | N |
| T/C | 0.8938 | likely_pathogenic | 0.8781 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | -0.112(TCAP) | N |
| T/D | 0.8027 | likely_pathogenic | 0.8176 | pathogenic | 0.43 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | -1.61(TCAP) | N |
| T/E | 0.6534 | likely_pathogenic | 0.6664 | pathogenic | 0.393 | Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | -1.651(TCAP) | N |
| T/F | 0.6126 | likely_pathogenic | 0.6205 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | -0.297(TCAP) | N |
| T/G | 0.6167 | likely_pathogenic | 0.6084 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | -0.613(TCAP) | N |
| T/H | 0.6778 | likely_pathogenic | 0.6768 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | -0.161(TCAP) | N |
| T/I | 0.3737 | ambiguous | 0.3963 | ambiguous | -0.312 | Destabilizing | 0.967 | D | 0.371 | neutral | N | 0.478326103 | None | -0.585(TCAP) | N |
| T/K | 0.6032 | likely_pathogenic | 0.6356 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | -1.666(TCAP) | N |
| T/L | 0.2794 | likely_benign | 0.2818 | benign | -0.312 | Destabilizing | 0.998 | D | 0.527 | neutral | None | None | None | -0.585(TCAP) | N |
| T/M | 0.2203 | likely_benign | 0.2133 | benign | -0.115 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | 0.23(TCAP) | N |
| T/N | 0.3368 | likely_benign | 0.3582 | ambiguous | -0.217 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.515078275 | None | -0.673(TCAP) | N |
| T/P | 0.6403 | likely_pathogenic | 0.6508 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.635986548 | None | -0.571(TCAP) | N |
| T/Q | 0.5074 | ambiguous | 0.5139 | ambiguous | -0.391 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | -0.894(TCAP) | N |
| T/R | 0.5264 | ambiguous | 0.5678 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | -1.631(TCAP) | N |
| T/S | 0.2017 | likely_benign | 0.2043 | benign | -0.546 | Destabilizing | 0.992 | D | 0.406 | neutral | N | 0.39557997 | None | -0.975(TCAP) | N |
| T/V | 0.2493 | likely_benign | 0.2507 | benign | -0.411 | Destabilizing | 0.995 | D | 0.452 | neutral | None | None | None | -0.571(TCAP) | N |
| T/W | 0.9317 | likely_pathogenic | 0.9253 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | -0.363(TCAP) | N |
| T/Y | 0.7185 | likely_pathogenic | 0.7217 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | 0.049(TCAP) | 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.