Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20980 | 63163;63164;63165 | chr2:178588787;178588786;178588785 | chr2:179453514;179453513;179453512 |
| N2AB | 19339 | 58240;58241;58242 | chr2:178588787;178588786;178588785 | chr2:179453514;179453513;179453512 |
| N2A | 18412 | 55459;55460;55461 | chr2:178588787;178588786;178588785 | chr2:179453514;179453513;179453512 |
| N2B | 11915 | 35968;35969;35970 | chr2:178588787;178588786;178588785 | chr2:179453514;179453513;179453512 |
| Novex-1 | 12040 | 36343;36344;36345 | chr2:178588787;178588786;178588785 | chr2:179453514;179453513;179453512 |
| Novex-2 | 12107 | 36544;36545;36546 | chr2:178588787;178588786;178588785 | chr2:179453514;179453513;179453512 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/K | rs757789191  |
-1.403 | 0.994 | N | 0.776 | 0.539 | 0.727943564215 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| M/K | rs757789191 |
-1.403 | 0.994 | N | 0.776 | 0.539 | 0.727943564215 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/K | rs757789191 |
-1.403 | 0.994 | N | 0.776 | 0.539 | 0.727943564215 | gnomAD-4.0.0 | 1.23975E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6955E-06 | 0 | 0 |
| M/T | rs757789191 |
-2.052 | 0.994 | N | 0.77 | 0.484 | 0.745749600215 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| M/T | rs757789191 |
-2.052 | 0.994 | N | 0.77 | 0.484 | 0.745749600215 | gnomAD-4.0.0 | 1.02657E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16947E-05 | 2.31943E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.8026 | likely_pathogenic | 0.7839 | pathogenic | -1.95 | Destabilizing | 0.989 | D | 0.675 | neutral | None | None | None | None | N |
| M/C | 0.8583 | likely_pathogenic | 0.8731 | pathogenic | -2.665 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| M/D | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.073 | Highly Destabilizing | 0.999 | D | 0.808 | deleterious | None | None | None | None | N |
| M/E | 0.9954 | likely_pathogenic | 0.9925 | pathogenic | -1.822 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| M/F | 0.882 | likely_pathogenic | 0.8778 | pathogenic | -0.583 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| M/G | 0.9829 | likely_pathogenic | 0.977 | pathogenic | -2.445 | Highly Destabilizing | 0.995 | D | 0.753 | deleterious | None | None | None | None | N |
| M/H | 0.9971 | likely_pathogenic | 0.9965 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| M/I | 0.8345 | likely_pathogenic | 0.7971 | pathogenic | -0.527 | Destabilizing | 0.985 | D | 0.633 | neutral | N | 0.451637734 | None | None | N |
| M/K | 0.9912 | likely_pathogenic | 0.9939 | pathogenic | -1.2 | Destabilizing | 0.994 | D | 0.776 | deleterious | N | 0.502906487 | None | None | N |
| M/L | 0.6571 | likely_pathogenic | 0.5854 | pathogenic | -0.527 | Destabilizing | 0.927 | D | 0.427 | neutral | N | 0.456096618 | None | None | N |
| M/N | 0.9916 | likely_pathogenic | 0.9879 | pathogenic | -1.684 | Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| M/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.983 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| M/Q | 0.967 | likely_pathogenic | 0.9553 | pathogenic | -1.316 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | N |
| M/R | 0.9931 | likely_pathogenic | 0.9886 | pathogenic | -1.494 | Destabilizing | 0.998 | D | 0.81 | deleterious | N | 0.491550181 | None | None | N |
| M/S | 0.9576 | likely_pathogenic | 0.9458 | pathogenic | -2.214 | Highly Destabilizing | 0.995 | D | 0.749 | deleterious | None | None | None | None | N |
| M/T | 0.9504 | likely_pathogenic | 0.9217 | pathogenic | -1.82 | Destabilizing | 0.994 | D | 0.77 | deleterious | N | 0.472938947 | None | None | N |
| M/V | 0.4083 | ambiguous | 0.362 | ambiguous | -0.983 | Destabilizing | 0.985 | D | 0.539 | neutral | N | 0.412175269 | None | None | N |
| M/W | 0.9969 | likely_pathogenic | 0.9968 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| M/Y | 0.988 | likely_pathogenic | 0.9868 | pathogenic | -0.85 | Destabilizing | 0.999 | D | 0.811 | 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.