Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32726 | 98401;98402;98403 | chr2:178539889;178539888;178539887 | chr2:179404616;179404615;179404614 |
| N2AB | 31085 | 93478;93479;93480 | chr2:178539889;178539888;178539887 | chr2:179404616;179404615;179404614 |
| N2A | 30158 | 90697;90698;90699 | chr2:178539889;178539888;178539887 | chr2:179404616;179404615;179404614 |
| N2B | 23661 | 71206;71207;71208 | chr2:178539889;178539888;178539887 | chr2:179404616;179404615;179404614 |
| Novex-1 | 23786 | 71581;71582;71583 | chr2:178539889;178539888;178539887 | chr2:179404616;179404615;179404614 |
| Novex-2 | 23853 | 71782;71783;71784 | chr2:178539889;178539888;178539887 | chr2:179404616;179404615;179404614 |
| 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 | rs750062113  |
-1.081 | 0.901 | N | 0.683 | 0.264 | 0.379193981924 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| I/M | rs750062113 |
-1.081 | 0.901 | N | 0.683 | 0.264 | 0.379193981924 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.773E-05 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs758088774 |
-2.488 | 0.722 | N | 0.701 | 0.387 | 0.486352402194 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/T | rs758088774 |
-2.488 | 0.722 | N | 0.701 | 0.387 | 0.486352402194 | gnomAD-4.0.0 | 6.15785E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19584E-06 | 1.15931E-05 | 0 |
| I/V | None | None | 0.001 | N | 0.322 | 0.075 | 0.300449992093 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02407E-05 |
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 | 0.8002 | likely_pathogenic | 0.8184 | pathogenic | -2.135 | Highly Destabilizing | 0.415 | N | 0.715 | prob.delet. | None | None | None | None | I |
| I/C | 0.8853 | likely_pathogenic | 0.9002 | pathogenic | -1.444 | Destabilizing | 0.989 | D | 0.783 | deleterious | None | None | None | None | I |
| I/D | 0.9958 | likely_pathogenic | 0.9968 | pathogenic | -2.168 | Highly Destabilizing | 0.987 | D | 0.847 | deleterious | None | None | None | None | I |
| I/E | 0.9907 | likely_pathogenic | 0.9927 | pathogenic | -1.929 | Destabilizing | 0.961 | D | 0.83 | deleterious | None | None | None | None | I |
| I/F | 0.4864 | ambiguous | 0.4974 | ambiguous | -1.292 | Destabilizing | 0.923 | D | 0.698 | prob.neutral | None | None | None | None | I |
| I/G | 0.9753 | likely_pathogenic | 0.9802 | pathogenic | -2.646 | Highly Destabilizing | 0.961 | D | 0.816 | deleterious | None | None | None | None | I |
| I/H | 0.9788 | likely_pathogenic | 0.984 | pathogenic | -1.939 | Destabilizing | 0.996 | D | 0.86 | deleterious | None | None | None | None | I |
| I/K | 0.983 | likely_pathogenic | 0.985 | pathogenic | -1.609 | Destabilizing | 0.949 | D | 0.831 | deleterious | N | 0.476038095 | None | None | I |
| I/L | 0.2024 | likely_benign | 0.2085 | benign | -0.661 | Destabilizing | 0.19 | N | 0.475 | neutral | N | 0.497420378 | None | None | I |
| I/M | 0.28 | likely_benign | 0.2993 | benign | -0.651 | Destabilizing | 0.901 | D | 0.683 | prob.neutral | N | 0.45290741 | None | None | I |
| I/N | 0.9406 | likely_pathogenic | 0.9563 | pathogenic | -2.043 | Highly Destabilizing | 0.987 | D | 0.861 | deleterious | None | None | None | None | I |
| I/P | 0.9875 | likely_pathogenic | 0.9879 | pathogenic | -1.134 | Destabilizing | 0.987 | D | 0.853 | deleterious | None | None | None | None | I |
| I/Q | 0.9788 | likely_pathogenic | 0.9824 | pathogenic | -1.842 | Destabilizing | 0.987 | D | 0.852 | deleterious | None | None | None | None | I |
| I/R | 0.9722 | likely_pathogenic | 0.9758 | pathogenic | -1.467 | Destabilizing | 0.949 | D | 0.861 | deleterious | N | 0.475784605 | None | None | I |
| I/S | 0.9002 | likely_pathogenic | 0.9147 | pathogenic | -2.724 | Highly Destabilizing | 0.923 | D | 0.791 | deleterious | None | None | None | None | I |
| I/T | 0.8362 | likely_pathogenic | 0.849 | pathogenic | -2.324 | Highly Destabilizing | 0.722 | D | 0.701 | prob.neutral | N | 0.510426961 | None | None | I |
| I/V | 0.0751 | likely_benign | 0.082 | benign | -1.134 | Destabilizing | 0.001 | N | 0.322 | neutral | N | 0.401179123 | None | None | I |
| I/W | 0.9856 | likely_pathogenic | 0.9881 | pathogenic | -1.558 | Destabilizing | 0.996 | D | 0.851 | deleterious | None | None | None | None | I |
| I/Y | 0.9285 | likely_pathogenic | 0.9374 | pathogenic | -1.25 | Destabilizing | 0.961 | D | 0.779 | deleterious | None | None | None | None | I |
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.