Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2687 | 8284;8285;8286 | chr2:178771268;178771267;178771266 | chr2:179635995;179635994;179635993 |
| N2AB | 2687 | 8284;8285;8286 | chr2:178771268;178771267;178771266 | chr2:179635995;179635994;179635993 |
| N2A | 2687 | 8284;8285;8286 | chr2:178771268;178771267;178771266 | chr2:179635995;179635994;179635993 |
| N2B | 2641 | 8146;8147;8148 | chr2:178771268;178771267;178771266 | chr2:179635995;179635994;179635993 |
| Novex-1 | 2641 | 8146;8147;8148 | chr2:178771268;178771267;178771266 | chr2:179635995;179635994;179635993 |
| Novex-2 | 2641 | 8146;8147;8148 | chr2:178771268;178771267;178771266 | chr2:179635995;179635994;179635993 |
| Novex-3 | 2687 | 8284;8285;8286 | chr2:178771268;178771267;178771266 | chr2:179635995;179635994;179635993 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1396688224  |
-0.966 | 0.997 | D | 0.798 | 0.568 | 0.429435026966 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/R | rs1396688224 |
-0.966 | 0.997 | D | 0.798 | 0.568 | 0.429435026966 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs1396688224 |
-0.966 | 0.997 | D | 0.798 | 0.568 | 0.429435026966 | gnomAD-4.0.0 | 6.57419E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2889 | likely_benign | 0.3277 | benign | -0.573 | Destabilizing | 0.117 | N | 0.557 | neutral | N | 0.393508888 | None | None | N |
| G/C | 0.6513 | likely_pathogenic | 0.6874 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/D | 0.8125 | likely_pathogenic | 0.8246 | pathogenic | -1.064 | Destabilizing | 0.998 | D | 0.811 | deleterious | None | None | None | None | N |
| G/E | 0.8554 | likely_pathogenic | 0.8634 | pathogenic | -1.03 | Destabilizing | 0.993 | D | 0.809 | deleterious | D | 0.604226232 | None | None | N |
| G/F | 0.9606 | likely_pathogenic | 0.9682 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/H | 0.9301 | likely_pathogenic | 0.9389 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/I | 0.9456 | likely_pathogenic | 0.955 | pathogenic | 0.12 | Stabilizing | 0.995 | D | 0.803 | deleterious | None | None | None | None | N |
| G/K | 0.9243 | likely_pathogenic | 0.925 | pathogenic | -1.053 | Destabilizing | 0.995 | D | 0.811 | deleterious | None | None | None | None | N |
| G/L | 0.9247 | likely_pathogenic | 0.9365 | pathogenic | 0.12 | Stabilizing | 0.995 | D | 0.802 | deleterious | None | None | None | None | N |
| G/M | 0.9527 | likely_pathogenic | 0.9624 | pathogenic | 0.058 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/N | 0.8723 | likely_pathogenic | 0.8984 | pathogenic | -0.883 | Destabilizing | 0.998 | D | 0.836 | deleterious | None | None | None | None | N |
| G/P | 0.9963 | likely_pathogenic | 0.996 | pathogenic | -0.066 | Destabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| G/Q | 0.8748 | likely_pathogenic | 0.8853 | pathogenic | -0.898 | Destabilizing | 0.999 | D | 0.802 | deleterious | None | None | None | None | N |
| G/R | 0.8302 | likely_pathogenic | 0.8282 | pathogenic | -0.967 | Destabilizing | 0.997 | D | 0.798 | deleterious | D | 0.570293625 | None | None | N |
| G/S | 0.2983 | likely_benign | 0.3371 | benign | -1.229 | Destabilizing | 0.966 | D | 0.784 | deleterious | None | None | None | None | N |
| G/T | 0.7275 | likely_pathogenic | 0.7651 | pathogenic | -1.091 | Destabilizing | 0.995 | D | 0.798 | deleterious | None | None | None | None | N |
| G/V | 0.8712 | likely_pathogenic | 0.887 | pathogenic | -0.066 | Destabilizing | 0.987 | D | 0.795 | deleterious | D | 0.606222398 | None | None | N |
| G/W | 0.935 | likely_pathogenic | 0.939 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| G/Y | 0.9518 | likely_pathogenic | 0.9594 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.827 | deleterious | 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.