Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6843 | 20752;20753;20754 | chr2:178725795;178725794;178725793 | chr2:179590522;179590521;179590520 |
| N2AB | 6526 | 19801;19802;19803 | chr2:178725795;178725794;178725793 | chr2:179590522;179590521;179590520 |
| N2A | 5599 | 17020;17021;17022 | chr2:178725795;178725794;178725793 | chr2:179590522;179590521;179590520 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs768574442  |
-0.918 | None | N | 0.227 | 0.085 | 0.218112801441 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.38E-05 | None | 0 | 0 | 0 |
| T/A | rs768574442 |
-0.918 | None | N | 0.227 | 0.085 | 0.218112801441 | gnomAD-4.0.0 | 4.82936E-06 | None | None | None | None | N | None | 0 | 2.31203E-05 | None | 0 | 0 | None | 0 | 2.43427E-04 | 0 | 1.45302E-05 | 0 |
| T/I | rs1351578850 |
0.02 | 0.049 | N | 0.54 | 0.321 | 0.557405679382 | gnomAD-2.1.1 | 7.25E-06 | None | None | None | None | N | None | 4.14E-05 | 2.87E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1351578850 |
0.02 | 0.049 | N | 0.54 | 0.321 | 0.557405679382 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1351578850 |
0.02 | 0.049 | N | 0.54 | 0.321 | 0.557405679382 | gnomAD-4.0.0 | 2.58736E-06 | None | None | None | None | N | None | 1.69814E-05 | 1.70928E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0859 | likely_benign | 0.0782 | benign | -0.796 | Destabilizing | None | N | 0.227 | neutral | N | 0.487368759 | None | None | N |
| T/C | 0.4386 | ambiguous | 0.3607 | ambiguous | -0.428 | Destabilizing | 0.731 | D | 0.594 | neutral | None | None | None | None | N |
| T/D | 0.3458 | ambiguous | 0.3077 | benign | -0.134 | Destabilizing | 0.093 | N | 0.557 | neutral | None | None | None | None | N |
| T/E | 0.3496 | ambiguous | 0.3097 | benign | -0.139 | Destabilizing | 0.088 | N | 0.533 | neutral | None | None | None | None | N |
| T/F | 0.1674 | likely_benign | 0.1287 | benign | -0.872 | Destabilizing | 0.56 | D | 0.658 | neutral | None | None | None | None | N |
| T/G | 0.2521 | likely_benign | 0.2156 | benign | -1.048 | Destabilizing | 0.109 | N | 0.553 | neutral | None | None | None | None | N |
| T/H | 0.2389 | likely_benign | 0.2103 | benign | -1.282 | Destabilizing | 0.917 | D | 0.657 | neutral | None | None | None | None | N |
| T/I | 0.1268 | likely_benign | 0.0983 | benign | -0.217 | Destabilizing | 0.049 | N | 0.54 | neutral | N | 0.499093912 | None | None | N |
| T/K | 0.2715 | likely_benign | 0.25 | benign | -0.774 | Destabilizing | 0.119 | N | 0.53 | neutral | None | None | None | None | N |
| T/L | 0.0975 | likely_benign | 0.0815 | benign | -0.217 | Destabilizing | None | N | 0.335 | neutral | None | None | None | None | N |
| T/M | 0.1016 | likely_benign | 0.0826 | benign | 0.019 | Stabilizing | 0.322 | N | 0.615 | neutral | None | None | None | None | N |
| T/N | 0.1026 | likely_benign | 0.095 | benign | -0.661 | Destabilizing | 0.072 | N | 0.501 | neutral | N | 0.493850582 | None | None | N |
| T/P | 0.3829 | ambiguous | 0.3559 | ambiguous | -0.377 | Destabilizing | 0.072 | N | 0.606 | neutral | N | 0.513083564 | None | None | N |
| T/Q | 0.282 | likely_benign | 0.2498 | benign | -0.795 | Destabilizing | 0.311 | N | 0.607 | neutral | None | None | None | None | N |
| T/R | 0.2131 | likely_benign | 0.1951 | benign | -0.525 | Destabilizing | 0.56 | D | 0.605 | neutral | None | None | None | None | N |
| T/S | 0.0896 | likely_benign | 0.079 | benign | -0.928 | Destabilizing | None | N | 0.173 | neutral | N | 0.439592023 | None | None | N |
| T/V | 0.1132 | likely_benign | 0.0936 | benign | -0.377 | Destabilizing | 0.046 | N | 0.503 | neutral | None | None | None | None | N |
| T/W | 0.5849 | likely_pathogenic | 0.4821 | ambiguous | -0.831 | Destabilizing | 0.967 | D | 0.712 | prob.delet. | None | None | None | None | N |
| T/Y | 0.2205 | likely_benign | 0.18 | benign | -0.609 | Destabilizing | 0.721 | D | 0.661 | neutral | 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.