Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27290 | 82093;82094;82095 | chr2:178564264;178564263;178564262 | chr2:179428991;179428990;179428989 |
| N2AB | 25649 | 77170;77171;77172 | chr2:178564264;178564263;178564262 | chr2:179428991;179428990;179428989 |
| N2A | 24722 | 74389;74390;74391 | chr2:178564264;178564263;178564262 | chr2:179428991;179428990;179428989 |
| N2B | 18225 | 54898;54899;54900 | chr2:178564264;178564263;178564262 | chr2:179428991;179428990;179428989 |
| Novex-1 | 18350 | 55273;55274;55275 | chr2:178564264;178564263;178564262 | chr2:179428991;179428990;179428989 |
| Novex-2 | 18417 | 55474;55475;55476 | chr2:178564264;178564263;178564262 | chr2:179428991;179428990;179428989 |
| 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/A | rs200240728  |
-0.594 | 1.0 | D | 0.723 | 0.603 | None | gnomAD-2.1.1 | 9.66E-05 | None | None | None | None | I | None | 0 | 1.13129E-04 | None | 0 | 0 | None | 2.28758E-04 | None | 0 | 1.25404E-04 | 0 |
| G/A | rs200240728 |
-0.594 | 1.0 | D | 0.723 | 0.603 | None | gnomAD-3.1.2 | 1.05175E-04 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.05834E-04 | 2.07125E-04 | 0 |
| G/A | rs200240728 |
-0.594 | 1.0 | D | 0.723 | 0.603 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/A | rs200240728 |
-0.594 | 1.0 | D | 0.723 | 0.603 | None | gnomAD-4.0.0 | 7.68625E-05 | None | None | None | None | I | None | 3.9984E-05 | 9.999E-05 | None | 0 | 0 | None | 0 | 8.2481E-04 | 6.78093E-05 | 2.96449E-04 | 4.80169E-05 |
| G/R | rs786205377 |
None | 1.0 | D | 0.828 | 0.624 | 0.845202876592 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4428 | ambiguous | 0.4973 | ambiguous | -0.298 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.602931148 | None | None | I |
| G/C | 0.5661 | likely_pathogenic | 0.6534 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/D | 0.4855 | ambiguous | 0.6228 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/E | 0.5158 | ambiguous | 0.6187 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.608251293 | None | None | I |
| G/F | 0.925 | likely_pathogenic | 0.942 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/H | 0.6748 | likely_pathogenic | 0.7583 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/I | 0.9323 | likely_pathogenic | 0.9556 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/K | 0.5592 | ambiguous | 0.6489 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/L | 0.8333 | likely_pathogenic | 0.8704 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/M | 0.8549 | likely_pathogenic | 0.8873 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/N | 0.4809 | ambiguous | 0.5934 | pathogenic | -0.399 | Destabilizing | 0.98 | D | 0.572 | neutral | None | None | None | None | I |
| G/P | 0.9849 | likely_pathogenic | 0.9896 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/Q | 0.5339 | ambiguous | 0.6139 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/R | 0.4455 | ambiguous | 0.5121 | ambiguous | -0.212 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.614044691 | None | None | I |
| G/S | 0.2366 | likely_benign | 0.2828 | benign | -0.491 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/T | 0.5807 | likely_pathogenic | 0.6461 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/V | 0.8506 | likely_pathogenic | 0.8901 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.651625004 | None | None | I |
| G/W | 0.7967 | likely_pathogenic | 0.8365 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/Y | 0.8476 | likely_pathogenic | 0.8925 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.848 | 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.