Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25847 | 77764;77765;77766 | chr2:178568593;178568592;178568591 | chr2:179433320;179433319;179433318 |
| N2AB | 24206 | 72841;72842;72843 | chr2:178568593;178568592;178568591 | chr2:179433320;179433319;179433318 |
| N2A | 23279 | 70060;70061;70062 | chr2:178568593;178568592;178568591 | chr2:179433320;179433319;179433318 |
| N2B | 16782 | 50569;50570;50571 | chr2:178568593;178568592;178568591 | chr2:179433320;179433319;179433318 |
| Novex-1 | 16907 | 50944;50945;50946 | chr2:178568593;178568592;178568591 | chr2:179433320;179433319;179433318 |
| Novex-2 | 16974 | 51145;51146;51147 | chr2:178568593;178568592;178568591 | chr2:179433320;179433319;179433318 |
| 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 | rs917984063  |
-0.029 | 0.015 | N | 0.223 | 0.17 | 0.325263233342 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/I | rs917984063 |
-0.029 | 0.015 | N | 0.223 | 0.17 | 0.325263233342 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs917984063 |
-0.029 | 0.015 | N | 0.223 | 0.17 | 0.325263233342 | gnomAD-4.0.0 | 8.6779E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22975E-05 | None | 0 | 0 | 1.01733E-05 | 0 | 1.60154E-05 |
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 | 0.0678 | likely_benign | 0.0685 | benign | -0.467 | Destabilizing | 0.028 | N | 0.165 | neutral | N | 0.493117076 | None | None | N |
| T/C | 0.2495 | likely_benign | 0.2595 | benign | -0.119 | Destabilizing | 0.996 | D | 0.417 | neutral | None | None | None | None | N |
| T/D | 0.2553 | likely_benign | 0.2353 | benign | -0.174 | Destabilizing | 0.91 | D | 0.384 | neutral | None | None | None | None | N |
| T/E | 0.2151 | likely_benign | 0.1937 | benign | -0.264 | Destabilizing | 0.742 | D | 0.387 | neutral | None | None | None | None | N |
| T/F | 0.1583 | likely_benign | 0.1508 | benign | -1.073 | Destabilizing | 0.02 | N | 0.302 | neutral | None | None | None | None | N |
| T/G | 0.1758 | likely_benign | 0.1729 | benign | -0.571 | Destabilizing | 0.59 | D | 0.408 | neutral | None | None | None | None | N |
| T/H | 0.1691 | likely_benign | 0.1638 | benign | -1.014 | Destabilizing | 0.996 | D | 0.486 | neutral | None | None | None | None | N |
| T/I | 0.103 | likely_benign | 0.0964 | benign | -0.309 | Destabilizing | 0.015 | N | 0.223 | neutral | N | 0.482017435 | None | None | N |
| T/K | 0.1564 | likely_benign | 0.1463 | benign | -0.287 | Destabilizing | 0.91 | D | 0.384 | neutral | None | None | None | None | N |
| T/L | 0.0836 | likely_benign | 0.0826 | benign | -0.309 | Destabilizing | 0.373 | N | 0.351 | neutral | None | None | None | None | N |
| T/M | 0.0774 | likely_benign | 0.0757 | benign | 0.181 | Stabilizing | 0.91 | D | 0.414 | neutral | None | None | None | None | N |
| T/N | 0.094 | likely_benign | 0.0891 | benign | -0.046 | Destabilizing | 0.884 | D | 0.357 | neutral | N | 0.507990528 | None | None | N |
| T/P | 0.4599 | ambiguous | 0.4315 | ambiguous | -0.336 | Destabilizing | 0.939 | D | 0.41 | neutral | N | 0.493774314 | None | None | N |
| T/Q | 0.1695 | likely_benign | 0.162 | benign | -0.403 | Destabilizing | 0.953 | D | 0.435 | neutral | None | None | None | None | N |
| T/R | 0.1412 | likely_benign | 0.1299 | benign | 0.023 | Stabilizing | 0.91 | D | 0.414 | neutral | None | None | None | None | N |
| T/S | 0.0796 | likely_benign | 0.0801 | benign | -0.224 | Destabilizing | 0.028 | N | 0.238 | neutral | N | 0.447075355 | None | None | N |
| T/V | 0.091 | likely_benign | 0.0883 | benign | -0.336 | Destabilizing | 0.373 | N | 0.343 | neutral | None | None | None | None | N |
| T/W | 0.4381 | ambiguous | 0.3973 | ambiguous | -1.039 | Destabilizing | 0.996 | D | 0.525 | neutral | None | None | None | None | N |
| T/Y | 0.2117 | likely_benign | 0.1934 | benign | -0.753 | Destabilizing | 0.835 | D | 0.503 | 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.