Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25905 | 77938;77939;77940 | chr2:178568419;178568418;178568417 | chr2:179433146;179433145;179433144 |
| N2AB | 24264 | 73015;73016;73017 | chr2:178568419;178568418;178568417 | chr2:179433146;179433145;179433144 |
| N2A | 23337 | 70234;70235;70236 | chr2:178568419;178568418;178568417 | chr2:179433146;179433145;179433144 |
| N2B | 16840 | 50743;50744;50745 | chr2:178568419;178568418;178568417 | chr2:179433146;179433145;179433144 |
| Novex-1 | 16965 | 51118;51119;51120 | chr2:178568419;178568418;178568417 | chr2:179433146;179433145;179433144 |
| Novex-2 | 17032 | 51319;51320;51321 | chr2:178568419;178568418;178568417 | chr2:179433146;179433145;179433144 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1019296317  |
-0.895 | 0.988 | N | 0.771 | 0.228 | 0.308904156042 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29618E-04 | 0 |
| A/T | rs1019296317 |
-0.895 | 0.988 | N | 0.771 | 0.228 | 0.308904156042 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/T | rs1019296317 |
-0.895 | 0.988 | N | 0.771 | 0.228 | 0.308904156042 | gnomAD-4.0.0 | 6.41029E-06 | None | None | None | None | N | None | 3.38444E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18281E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5269 | ambiguous | 0.436 | ambiguous | -1.125 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/D | 0.7675 | likely_pathogenic | 0.7917 | pathogenic | -0.997 | Destabilizing | 0.988 | D | 0.763 | deleterious | N | 0.473709304 | None | None | N |
| A/E | 0.6119 | likely_pathogenic | 0.6313 | pathogenic | -1.057 | Destabilizing | 0.982 | D | 0.747 | deleterious | None | None | None | None | N |
| A/F | 0.6205 | likely_pathogenic | 0.6653 | pathogenic | -1.203 | Destabilizing | 0.998 | D | 0.792 | deleterious | None | None | None | None | N |
| A/G | 0.2701 | likely_benign | 0.2775 | benign | -1.116 | Destabilizing | 0.958 | D | 0.552 | neutral | N | 0.481867428 | None | None | N |
| A/H | 0.7787 | likely_pathogenic | 0.7885 | pathogenic | -1.11 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| A/I | 0.3841 | ambiguous | 0.4151 | ambiguous | -0.552 | Destabilizing | 0.995 | D | 0.783 | deleterious | None | None | None | None | N |
| A/K | 0.7727 | likely_pathogenic | 0.7862 | pathogenic | -0.942 | Destabilizing | 0.18 | N | 0.435 | neutral | None | None | None | None | N |
| A/L | 0.3702 | ambiguous | 0.3855 | ambiguous | -0.552 | Destabilizing | 0.968 | D | 0.673 | neutral | None | None | None | None | N |
| A/M | 0.3595 | ambiguous | 0.3643 | ambiguous | -0.52 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/N | 0.5209 | ambiguous | 0.5522 | ambiguous | -0.707 | Destabilizing | 0.991 | D | 0.775 | deleterious | None | None | None | None | N |
| A/P | 0.5271 | ambiguous | 0.559 | ambiguous | -0.637 | Destabilizing | 0.994 | D | 0.783 | deleterious | N | 0.486022454 | None | None | N |
| A/Q | 0.6198 | likely_pathogenic | 0.6212 | pathogenic | -0.946 | Destabilizing | 0.991 | D | 0.791 | deleterious | None | None | None | None | N |
| A/R | 0.7081 | likely_pathogenic | 0.7206 | pathogenic | -0.588 | Destabilizing | 0.982 | D | 0.784 | deleterious | None | None | None | None | N |
| A/S | 0.1099 | likely_benign | 0.1109 | benign | -1.098 | Destabilizing | 0.958 | D | 0.511 | neutral | N | 0.437265715 | None | None | N |
| A/T | 0.1499 | likely_benign | 0.1591 | benign | -1.068 | Destabilizing | 0.988 | D | 0.771 | deleterious | N | 0.476711156 | None | None | N |
| A/V | 0.1839 | likely_benign | 0.1909 | benign | -0.637 | Destabilizing | 0.958 | D | 0.672 | neutral | N | 0.470282829 | None | None | N |
| A/W | 0.9203 | likely_pathogenic | 0.9262 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| A/Y | 0.7645 | likely_pathogenic | 0.7786 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.791 | 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.