Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26304 | 79135;79136;79137 | chr2:178567222;178567221;178567220 | chr2:179431949;179431948;179431947 |
| N2AB | 24663 | 74212;74213;74214 | chr2:178567222;178567221;178567220 | chr2:179431949;179431948;179431947 |
| N2A | 23736 | 71431;71432;71433 | chr2:178567222;178567221;178567220 | chr2:179431949;179431948;179431947 |
| N2B | 17239 | 51940;51941;51942 | chr2:178567222;178567221;178567220 | chr2:179431949;179431948;179431947 |
| Novex-1 | 17364 | 52315;52316;52317 | chr2:178567222;178567221;178567220 | chr2:179431949;179431948;179431947 |
| Novex-2 | 17431 | 52516;52517;52518 | chr2:178567222;178567221;178567220 | chr2:179431949;179431948;179431947 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs1706246762  |
None | 1.0 | N | 0.889 | 0.528 | 0.706233644039 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5897 | likely_pathogenic | 0.6299 | pathogenic | -1.723 | Destabilizing | 0.998 | D | 0.626 | neutral | None | None | None | None | N |
| C/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| C/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| C/F | 0.9063 | likely_pathogenic | 0.9125 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.473932317 | None | None | N |
| C/G | 0.7167 | likely_pathogenic | 0.7583 | pathogenic | -2.092 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.49782347 | None | None | N |
| C/H | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -2.34 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| C/I | 0.6969 | likely_pathogenic | 0.7263 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| C/L | 0.7532 | likely_pathogenic | 0.77 | pathogenic | -0.733 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| C/M | 0.8977 | likely_pathogenic | 0.8992 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| C/N | 0.9966 | likely_pathogenic | 0.9966 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| C/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| C/Q | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| C/R | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.515927725 | None | None | N |
| C/S | 0.8607 | likely_pathogenic | 0.8823 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.489176189 | None | None | N |
| C/T | 0.8815 | likely_pathogenic | 0.9042 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| C/V | 0.4655 | ambiguous | 0.5074 | ambiguous | -1.039 | Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| C/W | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.504571419 | None | None | N |
| C/Y | 0.9856 | likely_pathogenic | 0.9845 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.889 | deleterious | N | 0.49279704 | 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.