Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4822 | 14689;14690;14691 | chr2:178735982;178735981;178735980 | chr2:179600709;179600708;179600707 |
| N2AB | 4505 | 13738;13739;13740 | chr2:178735982;178735981;178735980 | chr2:179600709;179600708;179600707 |
| N2A | 3578 | 10957;10958;10959 | chr2:178735982;178735981;178735980 | chr2:179600709;179600708;179600707 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/L | rs1381535545  |
-0.032 | 0.959 | D | 0.554 | 0.555 | 0.845233866649 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| P/L | rs1381535545 |
-0.032 | 0.959 | D | 0.554 | 0.555 | 0.845233866649 | gnomAD-4.0.0 | 4.10534E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39684E-06 | 0 | 0 |
| P/S | rs762428750 |
-0.297 | 0.159 | D | 0.109 | 0.51 | 0.375326005269 | gnomAD-2.1.1 | 2.81E-05 | None | None | None | None | I | None | 0 | 5.8E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.55E-05 | 0 |
| P/S | rs762428750 |
-0.297 | 0.159 | D | 0.109 | 0.51 | 0.375326005269 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| P/S | rs762428750 |
-0.297 | 0.159 | D | 0.109 | 0.51 | 0.375326005269 | gnomAD-4.0.0 | 1.11547E-05 | None | None | None | None | I | None | 1.33465E-05 | 3.33444E-05 | None | 0 | 0 | None | 0 | 0 | 1.01713E-05 | 2.19602E-05 | 1.60133E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.691 | likely_pathogenic | 0.6099 | pathogenic | -0.42 | Destabilizing | 0.704 | D | 0.403 | neutral | D | 0.710952096 | None | None | I |
| P/C | 0.9848 | likely_pathogenic | 0.9772 | pathogenic | -0.815 | Destabilizing | 0.999 | D | 0.441 | neutral | None | None | None | None | I |
| P/D | 0.9696 | likely_pathogenic | 0.9498 | pathogenic | -0.439 | Destabilizing | 0.046 | N | 0.147 | neutral | None | None | None | None | I |
| P/E | 0.9313 | likely_pathogenic | 0.8782 | pathogenic | -0.548 | Destabilizing | 0.17 | N | 0.145 | neutral | None | None | None | None | I |
| P/F | 0.992 | likely_pathogenic | 0.9871 | pathogenic | -0.72 | Destabilizing | 0.991 | D | 0.48 | neutral | None | None | None | None | I |
| P/G | 0.9279 | likely_pathogenic | 0.9028 | pathogenic | -0.499 | Destabilizing | 0.863 | D | 0.396 | neutral | None | None | None | None | I |
| P/H | 0.9489 | likely_pathogenic | 0.9119 | pathogenic | -0.014 | Destabilizing | 0.077 | N | 0.234 | neutral | D | 0.83446066 | None | None | I |
| P/I | 0.9552 | likely_pathogenic | 0.9418 | pathogenic | -0.352 | Destabilizing | 0.991 | D | 0.51 | neutral | None | None | None | None | I |
| P/K | 0.9714 | likely_pathogenic | 0.953 | pathogenic | -0.489 | Destabilizing | 0.939 | D | 0.412 | neutral | None | None | None | None | I |
| P/L | 0.8262 | likely_pathogenic | 0.7849 | pathogenic | -0.352 | Destabilizing | 0.959 | D | 0.554 | neutral | D | 0.779338589 | None | None | I |
| P/M | 0.9552 | likely_pathogenic | 0.9366 | pathogenic | -0.621 | Destabilizing | 0.999 | D | 0.426 | neutral | None | None | None | None | I |
| P/N | 0.9661 | likely_pathogenic | 0.9463 | pathogenic | -0.316 | Destabilizing | 0.939 | D | 0.487 | neutral | None | None | None | None | I |
| P/Q | 0.9159 | likely_pathogenic | 0.8604 | pathogenic | -0.527 | Destabilizing | 0.939 | D | 0.535 | neutral | None | None | None | None | I |
| P/R | 0.9265 | likely_pathogenic | 0.8787 | pathogenic | -0.001 | Destabilizing | 0.976 | D | 0.503 | neutral | D | 0.818568151 | None | None | I |
| P/S | 0.8772 | likely_pathogenic | 0.8138 | pathogenic | -0.618 | Destabilizing | 0.159 | N | 0.109 | neutral | D | 0.716685603 | None | None | I |
| P/T | 0.7701 | likely_pathogenic | 0.7002 | pathogenic | -0.635 | Destabilizing | 0.852 | D | 0.411 | neutral | D | 0.763664004 | None | None | I |
| P/V | 0.8875 | likely_pathogenic | 0.8559 | pathogenic | -0.346 | Destabilizing | 0.969 | D | 0.525 | neutral | None | None | None | None | I |
| P/W | 0.9934 | likely_pathogenic | 0.9895 | pathogenic | -0.78 | Destabilizing | 0.999 | D | 0.534 | neutral | None | None | None | None | I |
| P/Y | 0.9872 | likely_pathogenic | 0.9799 | pathogenic | -0.512 | Destabilizing | 0.982 | D | 0.495 | neutral | None | None | None | None | I |
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.