Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19346 | 58261;58262;58263 | chr2:178594458;178594457;178594456 | chr2:179459185;179459184;179459183 |
| N2AB | 17705 | 53338;53339;53340 | chr2:178594458;178594457;178594456 | chr2:179459185;179459184;179459183 |
| N2A | 16778 | 50557;50558;50559 | chr2:178594458;178594457;178594456 | chr2:179459185;179459184;179459183 |
| N2B | 10281 | 31066;31067;31068 | chr2:178594458;178594457;178594456 | chr2:179459185;179459184;179459183 |
| Novex-1 | 10406 | 31441;31442;31443 | chr2:178594458;178594457;178594456 | chr2:179459185;179459184;179459183 |
| Novex-2 | 10473 | 31642;31643;31644 | chr2:178594458;178594457;178594456 | chr2:179459185;179459184;179459183 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs754793079  |
-2.343 | 0.334 | N | 0.574 | 0.29 | 0.506250668499 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs754793079 |
-2.343 | 0.334 | N | 0.574 | 0.29 | 0.506250668499 | gnomAD-4.0.0 | 2.12159E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.5704E-04 | None | 0 | 0 | 0 | 0 | 1.657E-05 |
| V/F | None | None | 0.81 | N | 0.787 | 0.356 | 0.715428137178 | gnomAD-4.0.0 | 3.60098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93752E-06 | 0 | 0 |
| V/G | None | None | 0.712 | D | 0.824 | 0.372 | 0.811903216846 | gnomAD-4.0.0 | 6.84383E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99617E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4149 | ambiguous | 0.394 | ambiguous | -1.738 | Destabilizing | 0.334 | N | 0.574 | neutral | N | 0.480467954 | None | None | N |
| V/C | 0.768 | likely_pathogenic | 0.7752 | pathogenic | -1.379 | Destabilizing | 0.992 | D | 0.787 | deleterious | None | None | None | None | N |
| V/D | 0.918 | likely_pathogenic | 0.8848 | pathogenic | -1.824 | Destabilizing | 0.896 | D | 0.831 | deleterious | N | 0.485570062 | None | None | N |
| V/E | 0.7908 | likely_pathogenic | 0.7422 | pathogenic | -1.603 | Destabilizing | 0.617 | D | 0.831 | deleterious | None | None | None | None | N |
| V/F | 0.4165 | ambiguous | 0.42 | ambiguous | -0.98 | Destabilizing | 0.81 | D | 0.787 | deleterious | N | 0.49651784 | None | None | N |
| V/G | 0.7035 | likely_pathogenic | 0.6835 | pathogenic | -2.279 | Highly Destabilizing | 0.712 | D | 0.824 | deleterious | D | 0.529780743 | None | None | N |
| V/H | 0.8803 | likely_pathogenic | 0.86 | pathogenic | -1.949 | Destabilizing | 0.005 | N | 0.644 | neutral | None | None | None | None | N |
| V/I | 0.0949 | likely_benign | 0.0819 | benign | -0.247 | Destabilizing | 0.004 | N | 0.24 | neutral | N | 0.508112666 | None | None | N |
| V/K | 0.8262 | likely_pathogenic | 0.7927 | pathogenic | -1.439 | Destabilizing | 0.85 | D | 0.827 | deleterious | None | None | None | None | N |
| V/L | 0.356 | ambiguous | 0.323 | benign | -0.247 | Destabilizing | 0.002 | N | 0.193 | neutral | N | 0.486329098 | None | None | N |
| V/M | 0.3326 | likely_benign | 0.2829 | benign | -0.368 | Destabilizing | 0.85 | D | 0.569 | neutral | None | None | None | None | N |
| V/N | 0.7752 | likely_pathogenic | 0.7024 | pathogenic | -1.735 | Destabilizing | 0.85 | D | 0.831 | deleterious | None | None | None | None | N |
| V/P | 0.9563 | likely_pathogenic | 0.9437 | pathogenic | -0.714 | Destabilizing | 0.972 | D | 0.859 | deleterious | None | None | None | None | N |
| V/Q | 0.7426 | likely_pathogenic | 0.7099 | pathogenic | -1.538 | Destabilizing | 0.85 | D | 0.86 | deleterious | None | None | None | None | N |
| V/R | 0.7909 | likely_pathogenic | 0.7605 | pathogenic | -1.37 | Destabilizing | 0.85 | D | 0.855 | deleterious | None | None | None | None | N |
| V/S | 0.6428 | likely_pathogenic | 0.6022 | pathogenic | -2.426 | Highly Destabilizing | 0.617 | D | 0.811 | deleterious | None | None | None | None | N |
| V/T | 0.5264 | ambiguous | 0.4818 | ambiguous | -2.04 | Highly Destabilizing | 0.617 | D | 0.607 | neutral | None | None | None | None | N |
| V/W | 0.96 | likely_pathogenic | 0.9576 | pathogenic | -1.41 | Destabilizing | 0.992 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Y | 0.8216 | likely_pathogenic | 0.8227 | pathogenic | -0.994 | Destabilizing | 0.85 | D | 0.785 | 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.