Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19503 | 58732;58733;58734 | chr2:178593793;178593792;178593791 | chr2:179458520;179458519;179458518 |
| N2AB | 17862 | 53809;53810;53811 | chr2:178593793;178593792;178593791 | chr2:179458520;179458519;179458518 |
| N2A | 16935 | 51028;51029;51030 | chr2:178593793;178593792;178593791 | chr2:179458520;179458519;179458518 |
| N2B | 10438 | 31537;31538;31539 | chr2:178593793;178593792;178593791 | chr2:179458520;179458519;179458518 |
| Novex-1 | 10563 | 31912;31913;31914 | chr2:178593793;178593792;178593791 | chr2:179458520;179458519;179458518 |
| Novex-2 | 10630 | 32113;32114;32115 | chr2:178593793;178593792;178593791 | chr2:179458520;179458519;179458518 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs762898731  |
-1.684 | 1.0 | N | 0.823 | 0.385 | 0.364342057095 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| P/A | rs762898731 |
-1.684 | 1.0 | N | 0.823 | 0.385 | 0.364342057095 | gnomAD-4.0.0 | 1.59279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85961E-06 | 0 | 0 |
| P/L | rs2050765996 |
None | 1.0 | N | 0.885 | 0.496 | 0.717771820488 | 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 |
| P/S | rs762898731 |
-2.14 | 1.0 | N | 0.858 | 0.442 | 0.415438038341 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.65E-05 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs762898731 |
-2.14 | 1.0 | N | 0.858 | 0.442 | 0.415438038341 | gnomAD-4.0.0 | 1.59279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79049E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1022 | likely_benign | 0.0985 | benign | -1.658 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.494799439 | None | None | N |
| P/C | 0.644 | likely_pathogenic | 0.6266 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/D | 0.5908 | likely_pathogenic | 0.5925 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/E | 0.2573 | likely_benign | 0.254 | benign | -1.828 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/F | 0.6997 | likely_pathogenic | 0.6915 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/G | 0.5417 | ambiguous | 0.5575 | ambiguous | -2.027 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/H | 0.373 | ambiguous | 0.3804 | ambiguous | -1.482 | Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.501370139 | None | None | N |
| P/I | 0.3151 | likely_benign | 0.3039 | benign | -0.701 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/K | 0.3832 | ambiguous | 0.3828 | ambiguous | -1.495 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/L | 0.1621 | likely_benign | 0.1519 | benign | -0.701 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.508598615 | None | None | N |
| P/M | 0.3339 | likely_benign | 0.3192 | benign | -0.574 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/N | 0.5354 | ambiguous | 0.5466 | ambiguous | -1.47 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/Q | 0.221 | likely_benign | 0.2232 | benign | -1.54 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/R | 0.3145 | likely_benign | 0.3215 | benign | -1.022 | Destabilizing | 1.0 | D | 0.903 | deleterious | N | 0.488265861 | None | None | N |
| P/S | 0.2291 | likely_benign | 0.2328 | benign | -1.944 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.492291559 | None | None | N |
| P/T | 0.1813 | likely_benign | 0.183 | benign | -1.742 | Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.480036654 | None | None | N |
| P/V | 0.2257 | likely_benign | 0.2205 | benign | -0.99 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/W | 0.8531 | likely_pathogenic | 0.8435 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/Y | 0.6274 | likely_pathogenic | 0.6374 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.883 | 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.