Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30657 | 92194;92195;92196 | chr2:178549753;178549752;178549751 | chr2:179414480;179414479;179414478 |
| N2AB | 29016 | 87271;87272;87273 | chr2:178549753;178549752;178549751 | chr2:179414480;179414479;179414478 |
| N2A | 28089 | 84490;84491;84492 | chr2:178549753;178549752;178549751 | chr2:179414480;179414479;179414478 |
| N2B | 21592 | 64999;65000;65001 | chr2:178549753;178549752;178549751 | chr2:179414480;179414479;179414478 |
| Novex-1 | 21717 | 65374;65375;65376 | chr2:178549753;178549752;178549751 | chr2:179414480;179414479;179414478 |
| Novex-2 | 21784 | 65575;65576;65577 | chr2:178549753;178549752;178549751 | chr2:179414480;179414479;179414478 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs888042945  |
None | 0.984 | N | 0.618 | 0.412 | 0.497613835824 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/M | rs888042945 |
None | 0.984 | N | 0.618 | 0.412 | 0.497613835824 | gnomAD-4.0.0 | 2.73696E-06 | None | None | None | None | N | None | 0 | 8.94574E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs942083769 |
-3.559 | 0.896 | D | 0.601 | 0.492 | 0.730582074568 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| I/T | rs942083769 |
-3.559 | 0.896 | D | 0.601 | 0.492 | 0.730582074568 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs942083769 |
-3.559 | 0.896 | D | 0.601 | 0.492 | 0.730582074568 | gnomAD-4.0.0 | 4.33805E-06 | None | None | None | None | N | None | 1.33501E-05 | 1.66717E-05 | None | 0 | 0 | None | 0 | 0 | 2.54291E-06 | 1.09803E-05 | 1.60123E-05 |
| I/V | rs940922600 |
-2.151 | 0.004 | N | 0.185 | 0.072 | 0.361160317528 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs940922600 |
-2.151 | 0.004 | N | 0.185 | 0.072 | 0.361160317528 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs940922600 |
-2.151 | 0.004 | N | 0.185 | 0.072 | 0.361160317528 | gnomAD-4.0.0 | 2.56235E-06 | None | None | None | None | N | None | 3.38295E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8171 | likely_pathogenic | 0.858 | pathogenic | -3.004 | Highly Destabilizing | 0.702 | D | 0.645 | neutral | None | None | None | None | N |
| I/C | 0.9518 | likely_pathogenic | 0.9572 | pathogenic | -1.982 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| I/D | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -3.597 | Highly Destabilizing | 0.996 | D | 0.859 | deleterious | None | None | None | None | N |
| I/E | 0.9971 | likely_pathogenic | 0.9977 | pathogenic | -3.273 | Highly Destabilizing | 0.988 | D | 0.838 | deleterious | None | None | None | None | N |
| I/F | 0.7318 | likely_pathogenic | 0.8298 | pathogenic | -1.761 | Destabilizing | 0.968 | D | 0.622 | neutral | D | 0.53069625 | None | None | N |
| I/G | 0.9894 | likely_pathogenic | 0.9926 | pathogenic | -3.594 | Highly Destabilizing | 0.988 | D | 0.804 | deleterious | None | None | None | None | N |
| I/H | 0.9965 | likely_pathogenic | 0.9977 | pathogenic | -3.223 | Highly Destabilizing | 0.999 | D | 0.872 | deleterious | None | None | None | None | N |
| I/K | 0.9924 | likely_pathogenic | 0.9945 | pathogenic | -2.278 | Highly Destabilizing | 0.988 | D | 0.841 | deleterious | None | None | None | None | N |
| I/L | 0.1868 | likely_benign | 0.1879 | benign | -1.208 | Destabilizing | 0.437 | N | 0.303 | neutral | N | 0.449701868 | None | None | N |
| I/M | 0.2977 | likely_benign | 0.3328 | benign | -1.374 | Destabilizing | 0.984 | D | 0.618 | neutral | N | 0.494398835 | None | None | N |
| I/N | 0.9911 | likely_pathogenic | 0.9929 | pathogenic | -2.999 | Highly Destabilizing | 0.995 | D | 0.873 | deleterious | D | 0.53094974 | None | None | N |
| I/P | 0.9926 | likely_pathogenic | 0.9952 | pathogenic | -1.801 | Destabilizing | 0.996 | D | 0.863 | deleterious | None | None | None | None | N |
| I/Q | 0.9936 | likely_pathogenic | 0.9952 | pathogenic | -2.635 | Highly Destabilizing | 0.996 | D | 0.88 | deleterious | None | None | None | None | N |
| I/R | 0.9872 | likely_pathogenic | 0.9908 | pathogenic | -2.31 | Highly Destabilizing | 0.988 | D | 0.871 | deleterious | None | None | None | None | N |
| I/S | 0.9672 | likely_pathogenic | 0.9762 | pathogenic | -3.5 | Highly Destabilizing | 0.984 | D | 0.764 | deleterious | D | 0.53094974 | None | None | N |
| I/T | 0.755 | likely_pathogenic | 0.8176 | pathogenic | -3.021 | Highly Destabilizing | 0.896 | D | 0.601 | neutral | D | 0.53069625 | None | None | N |
| I/V | 0.0845 | likely_benign | 0.0959 | benign | -1.801 | Destabilizing | 0.004 | N | 0.185 | neutral | N | 0.392914718 | None | None | N |
| I/W | 0.9944 | likely_pathogenic | 0.9968 | pathogenic | -2.124 | Highly Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| I/Y | 0.986 | likely_pathogenic | 0.9912 | pathogenic | -1.996 | Destabilizing | 0.988 | D | 0.742 | 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.