Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21067 | 63424;63425;63426 | chr2:178588208;178588207;178588206 | chr2:179452935;179452934;179452933 |
| N2AB | 19426 | 58501;58502;58503 | chr2:178588208;178588207;178588206 | chr2:179452935;179452934;179452933 |
| N2A | 18499 | 55720;55721;55722 | chr2:178588208;178588207;178588206 | chr2:179452935;179452934;179452933 |
| N2B | 12002 | 36229;36230;36231 | chr2:178588208;178588207;178588206 | chr2:179452935;179452934;179452933 |
| Novex-1 | 12127 | 36604;36605;36606 | chr2:178588208;178588207;178588206 | chr2:179452935;179452934;179452933 |
| Novex-2 | 12194 | 36805;36806;36807 | chr2:178588208;178588207;178588206 | chr2:179452935;179452934;179452933 |
| 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/A | None | None | 1.0 | N | 0.818 | 0.376 | 0.239901079897 | gnomAD-4.0.0 | 1.40824E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.83937E-06 | 0 | 0 |
| P/L | rs1479721183  |
-0.882 | 1.0 | N | 0.893 | 0.545 | 0.773205105146 | gnomAD-2.1.1 | 4.49E-06 | None | None | None | None | N | None | 0 | 3.18E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1479721183 |
-0.882 | 1.0 | N | 0.893 | 0.545 | 0.773205105146 | gnomAD-4.0.0 | 7.04641E-07 | None | None | None | None | N | None | 0 | 2.41022E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | None | None | 1.0 | N | 0.896 | 0.566 | 0.609343871639 | gnomAD-4.0.0 | 7.0464E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.20105E-07 | 0 | 0 |
| P/T | None | None | 1.0 | N | 0.827 | 0.486 | 0.604394614948 | gnomAD-4.0.0 | 7.04121E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.25172E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1592 | likely_benign | 0.1554 | benign | -1.577 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.484440799 | None | None | N |
| P/C | 0.6946 | likely_pathogenic | 0.6969 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/D | 0.908 | likely_pathogenic | 0.8973 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/E | 0.662 | likely_pathogenic | 0.6373 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/F | 0.7296 | likely_pathogenic | 0.7423 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/G | 0.6895 | likely_pathogenic | 0.6761 | pathogenic | -1.867 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/H | 0.5494 | ambiguous | 0.5424 | ambiguous | -1.434 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/I | 0.567 | likely_pathogenic | 0.5361 | ambiguous | -0.879 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/K | 0.6944 | likely_pathogenic | 0.6801 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/L | 0.3147 | likely_benign | 0.3133 | benign | -0.879 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.514431057 | None | None | N |
| P/M | 0.5345 | ambiguous | 0.5296 | ambiguous | -0.59 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/N | 0.7724 | likely_pathogenic | 0.7596 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/Q | 0.4192 | ambiguous | 0.4108 | ambiguous | -1.293 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.492906534 | None | None | N |
| P/R | 0.5503 | ambiguous | 0.5384 | ambiguous | -0.681 | Destabilizing | 1.0 | D | 0.896 | deleterious | N | 0.497034364 | None | None | N |
| P/S | 0.3359 | likely_benign | 0.3238 | benign | -1.463 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.478169641 | None | None | N |
| P/T | 0.38 | ambiguous | 0.3553 | ambiguous | -1.396 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.520672028 | None | None | N |
| P/V | 0.4473 | ambiguous | 0.4156 | ambiguous | -1.079 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/W | 0.9019 | likely_pathogenic | 0.9022 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/Y | 0.7641 | likely_pathogenic | 0.7654 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.905 | 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.