Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20867 | 62824;62825;62826 | chr2:178589126;178589125;178589124 | chr2:179453853;179453852;179453851 |
| N2AB | 19226 | 57901;57902;57903 | chr2:178589126;178589125;178589124 | chr2:179453853;179453852;179453851 |
| N2A | 18299 | 55120;55121;55122 | chr2:178589126;178589125;178589124 | chr2:179453853;179453852;179453851 |
| N2B | 11802 | 35629;35630;35631 | chr2:178589126;178589125;178589124 | chr2:179453853;179453852;179453851 |
| Novex-1 | 11927 | 36004;36005;36006 | chr2:178589126;178589125;178589124 | chr2:179453853;179453852;179453851 |
| Novex-2 | 11994 | 36205;36206;36207 | chr2:178589126;178589125;178589124 | chr2:179453853;179453852;179453851 |
| 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/S | rs374611035  |
-1.305 | 0.955 | N | 0.697 | 0.396 | 0.379193981924 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| P/S | rs374611035 |
-1.305 | 0.955 | N | 0.697 | 0.396 | 0.379193981924 | gnomAD-4.0.0 | 6.8475E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99559E-07 | 0 | 0 |
| P/T | rs374611035 |
-1.236 | 0.993 | N | 0.735 | 0.367 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 2.47995E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs374611035 |
-1.236 | 0.993 | N | 0.735 | 0.367 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20656E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs374611035 |
-1.236 | 0.993 | N | 0.735 | 0.367 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/T | rs374611035 |
-1.236 | 0.993 | N | 0.735 | 0.367 | None | gnomAD-4.0.0 | 5.58123E-06 | None | None | None | None | N | None | 1.19968E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1082 | likely_benign | 0.1124 | benign | -1.265 | Destabilizing | 0.117 | N | 0.365 | neutral | N | 0.467108688 | None | None | N |
| P/C | 0.6509 | likely_pathogenic | 0.6679 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/D | 0.7869 | likely_pathogenic | 0.7721 | pathogenic | -1.195 | Destabilizing | 0.998 | D | 0.744 | deleterious | None | None | None | None | N |
| P/E | 0.5225 | ambiguous | 0.5292 | ambiguous | -1.271 | Destabilizing | 0.995 | D | 0.725 | prob.delet. | None | None | None | None | N |
| P/F | 0.7212 | likely_pathogenic | 0.7269 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/G | 0.5542 | ambiguous | 0.5451 | ambiguous | -1.498 | Destabilizing | 0.966 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/H | 0.4414 | ambiguous | 0.4491 | ambiguous | -1.054 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.533447138 | None | None | N |
| P/I | 0.4167 | ambiguous | 0.4432 | ambiguous | -0.752 | Destabilizing | 0.995 | D | 0.837 | deleterious | None | None | None | None | N |
| P/K | 0.4804 | ambiguous | 0.5175 | ambiguous | -0.999 | Destabilizing | 0.995 | D | 0.724 | prob.delet. | None | None | None | None | N |
| P/L | 0.2501 | likely_benign | 0.2503 | benign | -0.752 | Destabilizing | 0.993 | D | 0.773 | deleterious | N | 0.510481038 | None | None | N |
| P/M | 0.4482 | ambiguous | 0.4728 | ambiguous | -0.442 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/N | 0.612 | likely_pathogenic | 0.601 | pathogenic | -0.642 | Destabilizing | 0.998 | D | 0.836 | deleterious | None | None | None | None | N |
| P/Q | 0.3103 | likely_benign | 0.3244 | benign | -0.937 | Destabilizing | 0.998 | D | 0.783 | deleterious | None | None | None | None | N |
| P/R | 0.3498 | ambiguous | 0.3845 | ambiguous | -0.385 | Destabilizing | 0.997 | D | 0.832 | deleterious | N | 0.505428155 | None | None | N |
| P/S | 0.2725 | likely_benign | 0.2652 | benign | -1.058 | Destabilizing | 0.955 | D | 0.697 | prob.neutral | N | 0.493311381 | None | None | N |
| P/T | 0.2148 | likely_benign | 0.2117 | benign | -1.042 | Destabilizing | 0.993 | D | 0.735 | prob.delet. | N | 0.521330364 | None | None | N |
| P/V | 0.2749 | likely_benign | 0.2922 | benign | -0.888 | Destabilizing | 0.99 | D | 0.762 | deleterious | None | None | None | None | N |
| P/W | 0.8814 | likely_pathogenic | 0.8804 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Y | 0.7319 | likely_pathogenic | 0.7358 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.855 | 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.