Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18693 | 56302;56303;56304 | chr2:178599824;178599823;178599822 | chr2:179464551;179464550;179464549 |
| N2AB | 17052 | 51379;51380;51381 | chr2:178599824;178599823;178599822 | chr2:179464551;179464550;179464549 |
| N2A | 16125 | 48598;48599;48600 | chr2:178599824;178599823;178599822 | chr2:179464551;179464550;179464549 |
| N2B | 9628 | 29107;29108;29109 | chr2:178599824;178599823;178599822 | chr2:179464551;179464550;179464549 |
| Novex-1 | 9753 | 29482;29483;29484 | chr2:178599824;178599823;178599822 | chr2:179464551;179464550;179464549 |
| Novex-2 | 9820 | 29683;29684;29685 | chr2:178599824;178599823;178599822 | chr2:179464551;179464550;179464549 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1458763630  |
-0.231 | 0.826 | N | 0.439 | 0.137 | 0.270889551736 | gnomAD-2.1.1 | 4.25E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.64E-05 | None | 0 | 0 | 0 |
| F/L | rs1458763630 |
-0.231 | 0.826 | N | 0.439 | 0.137 | 0.270889551736 | gnomAD-4.0.0 | 1.63184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.50024E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.6485 | likely_pathogenic | 0.7156 | pathogenic | -1.905 | Destabilizing | 0.028 | N | 0.203 | neutral | None | None | None | None | N |
| F/C | 0.5002 | ambiguous | 0.5787 | pathogenic | -0.401 | Destabilizing | 0.999 | D | 0.406 | neutral | N | 0.458868438 | None | None | N |
| F/D | 0.7051 | likely_pathogenic | 0.7784 | pathogenic | -0.859 | Destabilizing | 0.939 | D | 0.423 | neutral | None | None | None | None | N |
| F/E | 0.7535 | likely_pathogenic | 0.8035 | pathogenic | -0.851 | Destabilizing | 0.939 | D | 0.436 | neutral | None | None | None | None | N |
| F/G | 0.8059 | likely_pathogenic | 0.8467 | pathogenic | -2.17 | Highly Destabilizing | 0.759 | D | 0.427 | neutral | None | None | None | None | N |
| F/H | 0.5989 | likely_pathogenic | 0.6619 | pathogenic | -0.721 | Destabilizing | 0.997 | D | 0.417 | neutral | None | None | None | None | N |
| F/I | 0.3139 | likely_benign | 0.3714 | ambiguous | -1.139 | Destabilizing | 0.959 | D | 0.383 | neutral | N | 0.509213453 | None | None | N |
| F/K | 0.8093 | likely_pathogenic | 0.8566 | pathogenic | -0.803 | Destabilizing | 0.939 | D | 0.433 | neutral | None | None | None | None | N |
| F/L | 0.8998 | likely_pathogenic | 0.9205 | pathogenic | -1.139 | Destabilizing | 0.826 | D | 0.439 | neutral | N | 0.4513973 | None | None | N |
| F/M | 0.56 | ambiguous | 0.6094 | pathogenic | -0.646 | Destabilizing | 0.997 | D | 0.417 | neutral | None | None | None | None | N |
| F/N | 0.5314 | ambiguous | 0.6172 | pathogenic | -0.614 | Destabilizing | 0.982 | D | 0.42 | neutral | None | None | None | None | N |
| F/P | 0.9792 | likely_pathogenic | 0.9873 | pathogenic | -1.384 | Destabilizing | 0.991 | D | 0.419 | neutral | None | None | None | None | N |
| F/Q | 0.7435 | likely_pathogenic | 0.7901 | pathogenic | -0.795 | Destabilizing | 0.991 | D | 0.435 | neutral | None | None | None | None | N |
| F/R | 0.7474 | likely_pathogenic | 0.8057 | pathogenic | -0.111 | Destabilizing | 0.991 | D | 0.419 | neutral | None | None | None | None | N |
| F/S | 0.5219 | ambiguous | 0.6086 | pathogenic | -1.219 | Destabilizing | 0.31 | N | 0.252 | neutral | N | 0.413145556 | None | None | N |
| F/T | 0.5339 | ambiguous | 0.6162 | pathogenic | -1.127 | Destabilizing | 0.884 | D | 0.44 | neutral | None | None | None | None | N |
| F/V | 0.3243 | likely_benign | 0.3879 | ambiguous | -1.384 | Destabilizing | 0.92 | D | 0.445 | neutral | N | 0.453013453 | None | None | N |
| F/W | 0.5011 | ambiguous | 0.5432 | ambiguous | -0.801 | Destabilizing | 0.999 | D | 0.442 | neutral | None | None | None | None | N |
| F/Y | 0.1361 | likely_benign | 0.1585 | benign | -0.882 | Destabilizing | 0.986 | D | 0.411 | neutral | N | 0.498612457 | 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.