Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30559 | 91900;91901;91902 | chr2:178550163;178550162;178550161 | chr2:179414890;179414889;179414888 |
| N2AB | 28918 | 86977;86978;86979 | chr2:178550163;178550162;178550161 | chr2:179414890;179414889;179414888 |
| N2A | 27991 | 84196;84197;84198 | chr2:178550163;178550162;178550161 | chr2:179414890;179414889;179414888 |
| N2B | 21494 | 64705;64706;64707 | chr2:178550163;178550162;178550161 | chr2:179414890;179414889;179414888 |
| Novex-1 | 21619 | 65080;65081;65082 | chr2:178550163;178550162;178550161 | chr2:179414890;179414889;179414888 |
| Novex-2 | 21686 | 65281;65282;65283 | chr2:178550163;178550162;178550161 | chr2:179414890;179414889;179414888 |
| 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/I | rs1204855591  |
0.509 | 0.811 | N | 0.579 | 0.294 | 0.430808444494 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/I | rs1204855591 |
0.509 | 0.811 | N | 0.579 | 0.294 | 0.430808444494 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1204855591 |
0.509 | 0.811 | N | 0.579 | 0.294 | 0.430808444494 | gnomAD-4.0.0 | 6.57756E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47054E-05 | 0 | 0 |
| T/P | rs774619016 |
-0.147 | 0.995 | D | 0.672 | 0.557 | 0.557012442849 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/P | rs774619016 |
-0.147 | 0.995 | D | 0.672 | 0.557 | 0.557012442849 | gnomAD-4.0.0 | 1.59128E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85845E-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 | 0.0798 | likely_benign | 0.0806 | benign | -0.801 | Destabilizing | 0.64 | D | 0.553 | neutral | N | 0.501608219 | None | None | I |
| T/C | 0.2412 | likely_benign | 0.2503 | benign | -0.542 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | I |
| T/D | 0.3713 | ambiguous | 0.4172 | ambiguous | -0.424 | Destabilizing | 0.996 | D | 0.677 | prob.neutral | None | None | None | None | I |
| T/E | 0.2548 | likely_benign | 0.3002 | benign | -0.317 | Destabilizing | 0.988 | D | 0.641 | neutral | None | None | None | None | I |
| T/F | 0.1566 | likely_benign | 0.1654 | benign | -0.553 | Destabilizing | 0.976 | D | 0.733 | prob.delet. | None | None | None | None | I |
| T/G | 0.228 | likely_benign | 0.2324 | benign | -1.151 | Destabilizing | 0.988 | D | 0.68 | prob.neutral | None | None | None | None | I |
| T/H | 0.1653 | likely_benign | 0.1776 | benign | -1.231 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | I |
| T/I | 0.0927 | likely_benign | 0.1013 | benign | 0.077 | Stabilizing | 0.811 | D | 0.579 | neutral | N | 0.485038128 | None | None | I |
| T/K | 0.1517 | likely_benign | 0.1709 | benign | -0.594 | Destabilizing | 0.988 | D | 0.646 | neutral | None | None | None | None | I |
| T/L | 0.0761 | likely_benign | 0.077 | benign | 0.077 | Stabilizing | 0.034 | N | 0.383 | neutral | None | None | None | None | I |
| T/M | 0.0794 | likely_benign | 0.0807 | benign | 0.013 | Stabilizing | 0.976 | D | 0.685 | prob.neutral | None | None | None | None | I |
| T/N | 0.1032 | likely_benign | 0.1077 | benign | -0.864 | Destabilizing | 0.995 | D | 0.553 | neutral | N | 0.501470088 | None | None | I |
| T/P | 0.7183 | likely_pathogenic | 0.7087 | pathogenic | -0.182 | Destabilizing | 0.995 | D | 0.672 | neutral | D | 0.547984947 | None | None | I |
| T/Q | 0.1634 | likely_benign | 0.1807 | benign | -0.785 | Destabilizing | 0.996 | D | 0.684 | prob.neutral | None | None | None | None | I |
| T/R | 0.131 | likely_benign | 0.1441 | benign | -0.559 | Destabilizing | 0.996 | D | 0.681 | prob.neutral | None | None | None | None | I |
| T/S | 0.0885 | likely_benign | 0.089 | benign | -1.148 | Destabilizing | 0.946 | D | 0.505 | neutral | D | 0.526744073 | None | None | I |
| T/V | 0.0842 | likely_benign | 0.0891 | benign | -0.182 | Destabilizing | 0.015 | N | 0.239 | neutral | None | None | None | None | I |
| T/W | 0.4924 | ambiguous | 0.5141 | ambiguous | -0.618 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | I |
| T/Y | 0.209 | likely_benign | 0.2075 | benign | -0.308 | Destabilizing | 0.996 | D | 0.749 | 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.