Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27767 | 83524;83525;83526 | chr2:178562833;178562832;178562831 | chr2:179427560;179427559;179427558 |
| N2AB | 26126 | 78601;78602;78603 | chr2:178562833;178562832;178562831 | chr2:179427560;179427559;179427558 |
| N2A | 25199 | 75820;75821;75822 | chr2:178562833;178562832;178562831 | chr2:179427560;179427559;179427558 |
| N2B | 18702 | 56329;56330;56331 | chr2:178562833;178562832;178562831 | chr2:179427560;179427559;179427558 |
| Novex-1 | 18827 | 56704;56705;56706 | chr2:178562833;178562832;178562831 | chr2:179427560;179427559;179427558 |
| Novex-2 | 18894 | 56905;56906;56907 | chr2:178562833;178562832;178562831 | chr2:179427560;179427559;179427558 |
| 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/L | rs753567973  |
-0.489 | 1.0 | D | 0.827 | 0.618 | 0.903109083537 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| P/L | rs753567973 |
-0.489 | 1.0 | D | 0.827 | 0.618 | 0.903109083537 | gnomAD-4.0.0 | 1.59317E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43357E-05 | 0 |
| P/Q | rs753567973 |
-1.89 | 1.0 | D | 0.799 | 0.621 | 0.784051805902 | gnomAD-2.1.1 | 2.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.49E-05 | 0 |
| P/Q | rs753567973 |
-1.89 | 1.0 | D | 0.799 | 0.621 | 0.784051805902 | gnomAD-4.0.0 | 1.59317E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86056E-05 | 0 | 0 |
| P/T | rs184643087 |
-1.919 | 1.0 | D | 0.746 | 0.639 | None | gnomAD-2.1.1 | 2.37398E-04 | None | None | None | None | N | None | 2.50188E-03 | 1.13792E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.88E-06 | 1.41323E-04 |
| P/T | rs184643087 |
-1.919 | 1.0 | D | 0.746 | 0.639 | None | gnomAD-3.1.2 | 7.56191E-04 | None | None | None | None | N | None | 2.72881E-03 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| P/T | rs184643087 |
-1.919 | 1.0 | D | 0.746 | 0.639 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/T | rs184643087 |
-1.919 | 1.0 | D | 0.746 | 0.639 | None | gnomAD-4.0.0 | 1.31432E-04 | None | None | None | None | N | None | 2.53367E-03 | 1.5025E-04 | None | 0 | 0 | None | 0 | 0 | 5.0869E-06 | 0 | 1.12144E-04 |
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 | 0.9317 | likely_pathogenic | 0.9344 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.692491317 | None | None | N |
| P/C | 0.9953 | likely_pathogenic | 0.996 | pathogenic | -2.097 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.833 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.787 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/G | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/I | 0.9956 | likely_pathogenic | 0.9964 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/L | 0.9877 | likely_pathogenic | 0.9879 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.676875565 | None | None | N |
| P/M | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/N | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/Q | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.69309673 | None | None | N |
| P/R | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.692894926 | None | None | N |
| P/S | 0.9907 | likely_pathogenic | 0.991 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.739 | deleterious | D | 0.660422235 | None | None | N |
| P/T | 0.9905 | likely_pathogenic | 0.9915 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.676875565 | None | None | N |
| P/V | 0.9839 | likely_pathogenic | 0.9862 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/W | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/Y | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.844 | 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.