Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2213 | 6862;6863;6864 | chr2:178775074;178775073;178775072 | chr2:179639801;179639800;179639799 |
| N2AB | 2213 | 6862;6863;6864 | chr2:178775074;178775073;178775072 | chr2:179639801;179639800;179639799 |
| N2A | 2213 | 6862;6863;6864 | chr2:178775074;178775073;178775072 | chr2:179639801;179639800;179639799 |
| N2B | 2167 | 6724;6725;6726 | chr2:178775074;178775073;178775072 | chr2:179639801;179639800;179639799 |
| Novex-1 | 2167 | 6724;6725;6726 | chr2:178775074;178775073;178775072 | chr2:179639801;179639800;179639799 |
| Novex-2 | 2167 | 6724;6725;6726 | chr2:178775074;178775073;178775072 | chr2:179639801;179639800;179639799 |
| Novex-3 | 2213 | 6862;6863;6864 | chr2:178775074;178775073;178775072 | chr2:179639801;179639800;179639799 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs745719077  |
-0.562 | 0.999 | D | 0.501 | 0.236 | 0.268660756437 | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.33E-05 | 0 |
| E/D | rs745719077 |
-0.562 | 0.999 | D | 0.501 | 0.236 | 0.268660756437 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| E/D | rs745719077 |
-0.562 | 0.999 | D | 0.501 | 0.236 | 0.268660756437 | gnomAD-4.0.0 | 1.85881E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69494E-06 | 0 | 1.60041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.0932 | likely_benign | 0.1057 | benign | -0.856 | Destabilizing | 0.767 | D | 0.326 | neutral | D | 0.559635818 | None | None | N |
| E/C | 0.7722 | likely_pathogenic | 0.7923 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/D | 0.1973 | likely_benign | 0.2127 | benign | -0.903 | Destabilizing | 0.999 | D | 0.501 | neutral | D | 0.562285506 | None | None | N |
| E/F | 0.6046 | likely_pathogenic | 0.6222 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| E/G | 0.2072 | likely_benign | 0.2515 | benign | -1.179 | Destabilizing | 0.996 | D | 0.573 | neutral | D | 0.709832988 | None | None | N |
| E/H | 0.4629 | ambiguous | 0.4957 | ambiguous | -0.237 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| E/I | 0.1748 | likely_benign | 0.1997 | benign | 0.02 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| E/K | 0.1427 | likely_benign | 0.1672 | benign | -0.79 | Destabilizing | 0.998 | D | 0.557 | neutral | N | 0.499164703 | None | None | N |
| E/L | 0.1923 | likely_benign | 0.2124 | benign | 0.02 | Stabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| E/M | 0.2664 | likely_benign | 0.2965 | benign | 0.242 | Stabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| E/N | 0.2735 | likely_benign | 0.3033 | benign | -1.169 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| E/P | 0.2659 | likely_benign | 0.2999 | benign | -0.253 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/Q | 0.1298 | likely_benign | 0.1488 | benign | -1.045 | Destabilizing | 1.0 | D | 0.57 | neutral | D | 0.568835767 | None | None | N |
| E/R | 0.2434 | likely_benign | 0.2709 | benign | -0.324 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| E/S | 0.2038 | likely_benign | 0.2311 | benign | -1.453 | Destabilizing | 0.994 | D | 0.562 | neutral | None | None | None | None | N |
| E/T | 0.1762 | likely_benign | 0.2073 | benign | -1.194 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| E/V | 0.105 | likely_benign | 0.1219 | benign | -0.253 | Destabilizing | 0.999 | D | 0.569 | neutral | D | 0.533397478 | None | None | N |
| E/W | 0.8755 | likely_pathogenic | 0.8962 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| E/Y | 0.5854 | likely_pathogenic | 0.6116 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.667 | 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.