Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26038 | 78337;78338;78339 | chr2:178568020;178568019;178568018 | chr2:179432747;179432746;179432745 |
| N2AB | 24397 | 73414;73415;73416 | chr2:178568020;178568019;178568018 | chr2:179432747;179432746;179432745 |
| N2A | 23470 | 70633;70634;70635 | chr2:178568020;178568019;178568018 | chr2:179432747;179432746;179432745 |
| N2B | 16973 | 51142;51143;51144 | chr2:178568020;178568019;178568018 | chr2:179432747;179432746;179432745 |
| Novex-1 | 17098 | 51517;51518;51519 | chr2:178568020;178568019;178568018 | chr2:179432747;179432746;179432745 |
| Novex-2 | 17165 | 51718;51719;51720 | chr2:178568020;178568019;178568018 | chr2:179432747;179432746;179432745 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.919 | N | 0.512 | 0.232 | 0.17258766438 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| T/R | rs749204661  |
-0.094 | 0.994 | N | 0.717 | 0.392 | 0.535102873643 | gnomAD-2.1.1 | 4.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.92285E-04 | None | 0 | 0 | 0 |
| T/R | rs749204661 |
-0.094 | 0.994 | N | 0.717 | 0.392 | 0.535102873643 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13907E-04 | 0 |
| T/R | rs749204661 |
-0.094 | 0.994 | N | 0.717 | 0.392 | 0.535102873643 | gnomAD-4.0.0 | 2.2936E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.06245E-04 | 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 | 0.0925 | likely_benign | 0.0959 | benign | -0.658 | Destabilizing | 0.919 | D | 0.512 | neutral | N | 0.516209288 | None | None | N |
| T/C | 0.2883 | likely_benign | 0.316 | benign | -0.49 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/D | 0.5197 | ambiguous | 0.5693 | pathogenic | 0.274 | Stabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/E | 0.3441 | ambiguous | 0.3896 | ambiguous | 0.29 | Stabilizing | 0.995 | D | 0.7 | prob.neutral | None | None | None | None | N |
| T/F | 0.237 | likely_benign | 0.2782 | benign | -0.688 | Destabilizing | 0.991 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/G | 0.2373 | likely_benign | 0.2694 | benign | -0.912 | Destabilizing | 0.995 | D | 0.672 | neutral | None | None | None | None | N |
| T/H | 0.2589 | likely_benign | 0.2758 | benign | -1.051 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/I | 0.1172 | likely_benign | 0.1412 | benign | -0.074 | Destabilizing | 0.919 | D | 0.609 | neutral | N | 0.46582054 | None | None | N |
| T/K | 0.3114 | likely_benign | 0.3371 | benign | -0.508 | Destabilizing | 0.994 | D | 0.719 | prob.delet. | N | 0.487963894 | None | None | N |
| T/L | 0.0883 | likely_benign | 0.1016 | benign | -0.074 | Destabilizing | 0.938 | D | 0.521 | neutral | None | None | None | None | N |
| T/M | 0.0731 | likely_benign | 0.0782 | benign | -0.108 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/N | 0.1098 | likely_benign | 0.1178 | benign | -0.499 | Destabilizing | 0.998 | D | 0.692 | prob.neutral | None | None | None | None | N |
| T/P | 0.7036 | likely_pathogenic | 0.7812 | pathogenic | -0.236 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | N | 0.510882204 | None | None | N |
| T/Q | 0.2125 | likely_benign | 0.2195 | benign | -0.573 | Destabilizing | 0.998 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/R | 0.282 | likely_benign | 0.3177 | benign | -0.332 | Destabilizing | 0.994 | D | 0.717 | prob.delet. | N | 0.509379316 | None | None | N |
| T/S | 0.109 | likely_benign | 0.1139 | benign | -0.814 | Destabilizing | 0.979 | D | 0.53 | neutral | N | 0.48925476 | None | None | N |
| T/V | 0.0848 | likely_benign | 0.0997 | benign | -0.236 | Destabilizing | 0.086 | N | 0.325 | neutral | None | None | None | None | N |
| T/W | 0.632 | likely_pathogenic | 0.6891 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/Y | 0.2917 | likely_benign | 0.3275 | benign | -0.4 | Destabilizing | 0.995 | D | 0.727 | prob.delet. | 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.