Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8 | 247;248;249 | chr2:178804621;178804620;178804619 | chr2:179669348;179669347;179669346 |
| N2AB | 8 | 247;248;249 | chr2:178804621;178804620;178804619 | chr2:179669348;179669347;179669346 |
| N2A | 8 | 247;248;249 | chr2:178804621;178804620;178804619 | chr2:179669348;179669347;179669346 |
| N2B | 8 | 247;248;249 | chr2:178804621;178804620;178804619 | chr2:179669348;179669347;179669346 |
| Novex-1 | 8 | 247;248;249 | chr2:178804621;178804620;178804619 | chr2:179669348;179669347;179669346 |
| Novex-2 | 8 | 247;248;249 | chr2:178804621;178804620;178804619 | chr2:179669348;179669347;179669346 |
| Novex-3 | 8 | 247;248;249 | chr2:178804621;178804620;178804619 | chr2:179669348;179669347;179669346 |
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/I | None | None | 1.0 | N | 0.781 | 0.606 | 0.58541340546 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -3.121(TCAP) | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9921 | likely_pathogenic | 0.982 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | -3.111(TCAP) | N |
| F/C | 0.9893 | likely_pathogenic | 0.9754 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.823440667 | None | -2.518(TCAP) | N |
| F/D | 0.9989 | likely_pathogenic | 0.9979 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | -3.575(TCAP) | N |
| F/E | 0.9989 | likely_pathogenic | 0.9978 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | -3.608(TCAP) | N |
| F/G | 0.9977 | likely_pathogenic | 0.9947 | pathogenic | -2.791 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | -3.085(TCAP) | N |
| F/H | 0.9943 | likely_pathogenic | 0.9897 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | -1.876(TCAP) | N |
| F/I | 0.7673 | likely_pathogenic | 0.6066 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.513568433 | None | -3.121(TCAP) | N |
| F/K | 0.9991 | likely_pathogenic | 0.9981 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | -3.597(TCAP) | N |
| F/L | 0.9857 | likely_pathogenic | 0.9632 | pathogenic | -1.434 | Destabilizing | 1.0 | D | 0.641 | neutral | D | 0.680124808 | None | -3.121(TCAP) | N |
| F/M | 0.9583 | likely_pathogenic | 0.9183 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | -2.56(TCAP) | N |
| F/N | 0.9972 | likely_pathogenic | 0.9937 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | -2.893(TCAP) | N |
| F/P | 0.9993 | likely_pathogenic | 0.9981 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | -3.128(TCAP) | N |
| F/Q | 0.9983 | likely_pathogenic | 0.9965 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | -3.277(TCAP) | N |
| F/R | 0.9968 | likely_pathogenic | 0.9939 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | -3.207(TCAP) | N |
| F/S | 0.9949 | likely_pathogenic | 0.9873 | pathogenic | -2.123 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.823030808 | None | -3.019(TCAP) | N |
| F/T | 0.9945 | likely_pathogenic | 0.9871 | pathogenic | -1.941 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | -3.104(TCAP) | N |
| F/V | 0.8252 | likely_pathogenic | 0.6808 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.639553403 | None | -3.128(TCAP) | N |
| F/W | 0.9486 | likely_pathogenic | 0.921 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | -0.992(TCAP) | N |
| F/Y | 0.775 | likely_pathogenic | 0.6824 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.823090837 | None | -1.592(TCAP) | 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.