Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29829 | 89710;89711;89712 | chr2:178553520;178553519;178553518 | chr2:179418247;179418246;179418245 |
| N2AB | 28188 | 84787;84788;84789 | chr2:178553520;178553519;178553518 | chr2:179418247;179418246;179418245 |
| N2A | 27261 | 82006;82007;82008 | chr2:178553520;178553519;178553518 | chr2:179418247;179418246;179418245 |
| N2B | 20764 | 62515;62516;62517 | chr2:178553520;178553519;178553518 | chr2:179418247;179418246;179418245 |
| Novex-1 | 20889 | 62890;62891;62892 | chr2:178553520;178553519;178553518 | chr2:179418247;179418246;179418245 |
| Novex-2 | 20956 | 63091;63092;63093 | chr2:178553520;178553519;178553518 | chr2:179418247;179418246;179418245 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.982 | N | 0.516 | 0.312 | 0.221019684889 | gnomAD-4.0.0 | 6.84816E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99999E-07 | 0 | 0 |
| Q/H | rs1700184989  |
None | 0.998 | N | 0.661 | 0.164 | 0.222439326576 | 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 |
| Q/H | rs1700184989 |
None | 0.998 | N | 0.661 | 0.164 | 0.222439326576 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| Q/K | rs1700185971 |
None | 0.993 | N | 0.535 | 0.352 | 0.211220785272 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/K | rs1700185971 |
None | 0.993 | N | 0.535 | 0.352 | 0.211220785272 | gnomAD-4.0.0 | 1.24034E-06 | None | None | None | None | N | None | 0 | 1.66945E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.10028E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2154 | likely_benign | 0.2185 | benign | -0.6 | Destabilizing | 0.994 | D | 0.591 | neutral | None | None | None | None | N |
| Q/C | 0.6992 | likely_pathogenic | 0.7109 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.726 | deleterious | None | None | None | None | N |
| Q/D | 0.6297 | likely_pathogenic | 0.5903 | pathogenic | -0.367 | Destabilizing | 0.994 | D | 0.616 | neutral | None | None | None | None | N |
| Q/E | 0.0864 | likely_benign | 0.0847 | benign | -0.283 | Destabilizing | 0.982 | D | 0.516 | neutral | N | 0.425757855 | None | None | N |
| Q/F | 0.7043 | likely_pathogenic | 0.7081 | pathogenic | -0.31 | Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| Q/G | 0.4917 | ambiguous | 0.468 | ambiguous | -0.946 | Destabilizing | 0.994 | D | 0.571 | neutral | None | None | None | None | N |
| Q/H | 0.4277 | ambiguous | 0.4047 | ambiguous | -0.792 | Destabilizing | 0.998 | D | 0.661 | prob.neutral | N | 0.506162865 | None | None | N |
| Q/I | 0.2817 | likely_benign | 0.2936 | benign | 0.273 | Stabilizing | 0.998 | D | 0.779 | deleterious | None | None | None | None | N |
| Q/K | 0.1583 | likely_benign | 0.1542 | benign | -0.274 | Destabilizing | 0.993 | D | 0.535 | neutral | N | 0.449442791 | None | None | N |
| Q/L | 0.1442 | likely_benign | 0.1538 | benign | 0.273 | Stabilizing | 0.993 | D | 0.571 | neutral | N | 0.412385913 | None | None | N |
| Q/M | 0.2869 | likely_benign | 0.3036 | benign | 0.677 | Stabilizing | 0.998 | D | 0.669 | prob.neutral | None | None | None | None | N |
| Q/N | 0.5029 | ambiguous | 0.4863 | ambiguous | -0.789 | Destabilizing | 0.998 | D | 0.623 | neutral | None | None | None | None | N |
| Q/P | 0.2232 | likely_benign | 0.215 | benign | 0.014 | Stabilizing | 0.998 | D | 0.697 | prob.delet. | N | 0.476533392 | None | None | N |
| Q/R | 0.1814 | likely_benign | 0.1826 | benign | -0.214 | Destabilizing | 0.993 | D | 0.626 | neutral | N | 0.459851786 | None | None | N |
| Q/S | 0.3404 | ambiguous | 0.3504 | ambiguous | -0.894 | Destabilizing | 0.994 | D | 0.521 | neutral | None | None | None | None | N |
| Q/T | 0.1966 | likely_benign | 0.2086 | benign | -0.614 | Destabilizing | 0.998 | D | 0.662 | prob.neutral | None | None | None | None | N |
| Q/V | 0.1787 | likely_benign | 0.1901 | benign | 0.014 | Stabilizing | 0.998 | D | 0.513 | neutral | None | None | None | None | N |
| Q/W | 0.7646 | likely_pathogenic | 0.7274 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| Q/Y | 0.5979 | likely_pathogenic | 0.5853 | pathogenic | 0.04 | Stabilizing | 0.998 | D | 0.697 | prob.delet. | 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.