Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32167 | 96724;96725;96726 | chr2:178543474;178543473;178543472 | chr2:179408201;179408200;179408199 |
| N2AB | 30526 | 91801;91802;91803 | chr2:178543474;178543473;178543472 | chr2:179408201;179408200;179408199 |
| N2A | 29599 | 89020;89021;89022 | chr2:178543474;178543473;178543472 | chr2:179408201;179408200;179408199 |
| N2B | 23102 | 69529;69530;69531 | chr2:178543474;178543473;178543472 | chr2:179408201;179408200;179408199 |
| Novex-1 | 23227 | 69904;69905;69906 | chr2:178543474;178543473;178543472 | chr2:179408201;179408200;179408199 |
| Novex-2 | 23294 | 70105;70106;70107 | chr2:178543474;178543473;178543472 | chr2:179408201;179408200;179408199 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs189733990  |
-0.976 | 0.984 | N | 0.691 | 0.343 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| S/F | rs189733990 |
-0.976 | 0.984 | N | 0.691 | 0.343 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs189733990 |
-0.976 | 0.984 | N | 0.691 | 0.343 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| S/F | rs189733990 |
-0.976 | 0.984 | N | 0.691 | 0.343 | None | gnomAD-4.0.0 | 2.56182E-06 | None | None | None | None | N | None | 0 | 1.69428E-05 | None | 0 | 0 | None | 0 | 0 | 2.39307E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0775 | likely_benign | 0.0767 | benign | -0.697 | Destabilizing | 0.64 | D | 0.351 | neutral | N | 0.471151789 | None | None | N |
| S/C | 0.1334 | likely_benign | 0.1233 | benign | -0.474 | Destabilizing | 0.999 | D | 0.61 | neutral | N | 0.501821412 | None | None | N |
| S/D | 0.3399 | likely_benign | 0.3606 | ambiguous | 0.184 | Stabilizing | 0.919 | D | 0.414 | neutral | None | None | None | None | N |
| S/E | 0.4447 | ambiguous | 0.4583 | ambiguous | 0.134 | Stabilizing | 0.919 | D | 0.404 | neutral | None | None | None | None | N |
| S/F | 0.2286 | likely_benign | 0.2008 | benign | -1.145 | Destabilizing | 0.984 | D | 0.691 | prob.neutral | N | 0.509112744 | None | None | N |
| S/G | 0.0815 | likely_benign | 0.0829 | benign | -0.869 | Destabilizing | 0.919 | D | 0.435 | neutral | None | None | None | None | N |
| S/H | 0.2897 | likely_benign | 0.2913 | benign | -1.279 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| S/I | 0.1888 | likely_benign | 0.1735 | benign | -0.362 | Destabilizing | 0.976 | D | 0.633 | neutral | None | None | None | None | N |
| S/K | 0.5512 | ambiguous | 0.57 | pathogenic | -0.574 | Destabilizing | 0.919 | D | 0.412 | neutral | None | None | None | None | N |
| S/L | 0.1015 | likely_benign | 0.0917 | benign | -0.362 | Destabilizing | 0.851 | D | 0.581 | neutral | None | None | None | None | N |
| S/M | 0.1767 | likely_benign | 0.1681 | benign | -0.115 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| S/N | 0.1107 | likely_benign | 0.1141 | benign | -0.419 | Destabilizing | 0.919 | D | 0.417 | neutral | None | None | None | None | N |
| S/P | 0.0963 | likely_benign | 0.1003 | benign | -0.443 | Destabilizing | 0.984 | D | 0.584 | neutral | N | 0.43605778 | None | None | N |
| S/Q | 0.3906 | ambiguous | 0.4071 | ambiguous | -0.6 | Destabilizing | 0.988 | D | 0.526 | neutral | None | None | None | None | N |
| S/R | 0.5358 | ambiguous | 0.5473 | ambiguous | -0.39 | Destabilizing | 0.988 | D | 0.588 | neutral | None | None | None | None | N |
| S/T | 0.0628 | likely_benign | 0.0627 | benign | -0.525 | Destabilizing | 0.016 | N | 0.165 | neutral | N | 0.375275893 | None | None | N |
| S/V | 0.1726 | likely_benign | 0.166 | benign | -0.443 | Destabilizing | 0.851 | D | 0.575 | neutral | None | None | None | None | N |
| S/W | 0.4187 | ambiguous | 0.3747 | ambiguous | -1.099 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| S/Y | 0.2338 | likely_benign | 0.2163 | benign | -0.838 | Destabilizing | 0.995 | D | 0.693 | prob.neutral | N | 0.475967595 | 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.