Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32855 | 98788;98789;98790 | chr2:178539502;178539501;178539500 | chr2:179404229;179404228;179404227 |
| N2AB | 31214 | 93865;93866;93867 | chr2:178539502;178539501;178539500 | chr2:179404229;179404228;179404227 |
| N2A | 30287 | 91084;91085;91086 | chr2:178539502;178539501;178539500 | chr2:179404229;179404228;179404227 |
| N2B | 23790 | 71593;71594;71595 | chr2:178539502;178539501;178539500 | chr2:179404229;179404228;179404227 |
| Novex-1 | 23915 | 71968;71969;71970 | chr2:178539502;178539501;178539500 | chr2:179404229;179404228;179404227 |
| Novex-2 | 23982 | 72169;72170;72171 | chr2:178539502;178539501;178539500 | chr2:179404229;179404228;179404227 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs772942895  |
-0.907 | 1.0 | N | 0.883 | 0.683 | 0.849913666397 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65399E-04 |
| L/P | rs772942895 |
-0.907 | 1.0 | N | 0.883 | 0.683 | 0.849913666397 | gnomAD-4.0.0 | 6.15782E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59794E-06 | 4.63736E-05 | 1.65651E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.3527 | ambiguous | 0.2619 | benign | -1.915 | Destabilizing | 0.998 | D | 0.596 | neutral | None | None | None | None | N |
| L/C | 0.485 | ambiguous | 0.4119 | ambiguous | -1.298 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| L/D | 0.9447 | likely_pathogenic | 0.9054 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| L/E | 0.7767 | likely_pathogenic | 0.6681 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| L/F | 0.1738 | likely_benign | 0.1266 | benign | -0.996 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| L/G | 0.7967 | likely_pathogenic | 0.6977 | pathogenic | -2.404 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| L/H | 0.4237 | ambiguous | 0.2964 | benign | -1.566 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| L/I | 0.1309 | likely_benign | 0.1009 | benign | -0.553 | Destabilizing | 0.91 | D | 0.361 | neutral | None | None | None | None | N |
| L/K | 0.6039 | likely_pathogenic | 0.4868 | ambiguous | -1.361 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| L/M | 0.1448 | likely_benign | 0.1141 | benign | -0.566 | Destabilizing | 0.999 | D | 0.801 | deleterious | N | 0.47546153 | None | None | N |
| L/N | 0.7585 | likely_pathogenic | 0.6484 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| L/P | 0.975 | likely_pathogenic | 0.9581 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.484450291 | None | None | N |
| L/Q | 0.3785 | ambiguous | 0.2611 | benign | -1.464 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.472840496 | None | None | N |
| L/R | 0.4743 | ambiguous | 0.3559 | ambiguous | -1.079 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.483943312 | None | None | N |
| L/S | 0.5763 | likely_pathogenic | 0.4118 | ambiguous | -2.349 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| L/T | 0.4185 | ambiguous | 0.2943 | benign | -2.016 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| L/V | 0.123 | likely_benign | 0.0942 | benign | -0.982 | Destabilizing | 0.981 | D | 0.562 | neutral | N | 0.415909007 | None | None | N |
| L/W | 0.4045 | ambiguous | 0.3053 | benign | -1.213 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| L/Y | 0.4361 | ambiguous | 0.3538 | ambiguous | -0.919 | Destabilizing | 1.0 | D | 0.839 | 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.