Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18877 | 56854;56855;56856 | chr2:178599164;178599163;178599162 | chr2:179463891;179463890;179463889 |
| N2AB | 17236 | 51931;51932;51933 | chr2:178599164;178599163;178599162 | chr2:179463891;179463890;179463889 |
| N2A | 16309 | 49150;49151;49152 | chr2:178599164;178599163;178599162 | chr2:179463891;179463890;179463889 |
| N2B | 9812 | 29659;29660;29661 | chr2:178599164;178599163;178599162 | chr2:179463891;179463890;179463889 |
| Novex-1 | 9937 | 30034;30035;30036 | chr2:178599164;178599163;178599162 | chr2:179463891;179463890;179463889 |
| Novex-2 | 10004 | 30235;30236;30237 | chr2:178599164;178599163;178599162 | chr2:179463891;179463890;179463889 |
| 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/R | rs755224119  |
-0.194 | 0.483 | N | 0.565 | 0.211 | 0.254761474806 | gnomAD-2.1.1 | 5.88E-06 | None | None | None | None | N | None | 7.1E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs755224119 |
-0.194 | 0.483 | N | 0.565 | 0.211 | 0.254761474806 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs755224119 |
-0.194 | 0.483 | N | 0.565 | 0.211 | 0.254761474806 | gnomAD-4.0.0 | 2.97642E-06 | None | None | None | None | N | None | 1.80806E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.71135E-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 | 0.0886 | likely_benign | 0.0925 | benign | -0.695 | Destabilizing | 0.435 | N | 0.395 | neutral | N | 0.417141158 | None | None | N |
| T/C | 0.32 | likely_benign | 0.2985 | benign | -0.421 | Destabilizing | 0.995 | D | 0.502 | neutral | None | None | None | None | N |
| T/D | 0.5007 | ambiguous | 0.5482 | ambiguous | -0.227 | Destabilizing | 0.834 | D | 0.57 | neutral | None | None | None | None | N |
| T/E | 0.2531 | likely_benign | 0.2764 | benign | -0.24 | Destabilizing | 0.712 | D | 0.516 | neutral | None | None | None | None | N |
| T/F | 0.1968 | likely_benign | 0.2183 | benign | -0.791 | Destabilizing | 0.897 | D | 0.641 | neutral | None | None | None | None | N |
| T/G | 0.3743 | ambiguous | 0.3816 | ambiguous | -0.942 | Destabilizing | 0.834 | D | 0.648 | neutral | None | None | None | None | N |
| T/H | 0.2564 | likely_benign | 0.2663 | benign | -1.227 | Destabilizing | 0.995 | D | 0.589 | neutral | None | None | None | None | N |
| T/I | 0.0761 | likely_benign | 0.079 | benign | -0.132 | Destabilizing | 0.006 | N | 0.287 | neutral | N | 0.4169678 | None | None | N |
| T/K | 0.1338 | likely_benign | 0.1303 | benign | -0.722 | Destabilizing | 0.01 | N | 0.193 | neutral | N | 0.325732507 | None | None | N |
| T/L | 0.0697 | likely_benign | 0.0736 | benign | -0.132 | Destabilizing | 0.003 | N | 0.252 | neutral | None | None | None | None | N |
| T/M | 0.0635 | likely_benign | 0.0657 | benign | 0.124 | Stabilizing | 0.897 | D | 0.529 | neutral | None | None | None | None | N |
| T/N | 0.168 | likely_benign | 0.1823 | benign | -0.601 | Destabilizing | 0.834 | D | 0.462 | neutral | None | None | None | None | N |
| T/P | 0.1565 | likely_benign | 0.1768 | benign | -0.287 | Destabilizing | 0.976 | D | 0.559 | neutral | N | 0.41800795 | None | None | N |
| T/Q | 0.1787 | likely_benign | 0.1826 | benign | -0.782 | Destabilizing | 0.897 | D | 0.555 | neutral | None | None | None | None | N |
| T/R | 0.1251 | likely_benign | 0.1283 | benign | -0.459 | Destabilizing | 0.483 | N | 0.565 | neutral | N | 0.364962899 | None | None | N |
| T/S | 0.1731 | likely_benign | 0.1807 | benign | -0.853 | Destabilizing | 0.435 | N | 0.429 | neutral | N | 0.416101009 | None | None | N |
| T/V | 0.0685 | likely_benign | 0.0694 | benign | -0.287 | Destabilizing | 0.338 | N | 0.392 | neutral | None | None | None | None | N |
| T/W | 0.5355 | ambiguous | 0.538 | ambiguous | -0.738 | Destabilizing | 0.995 | D | 0.651 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2371 | likely_benign | 0.2367 | benign | -0.509 | Destabilizing | 0.982 | D | 0.665 | prob.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.