Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33680 | 101263;101264;101265 | chr2:178535577;178535576;178535575 | chr2:179400304;179400303;179400302 |
| N2AB | 32039 | 96340;96341;96342 | chr2:178535577;178535576;178535575 | chr2:179400304;179400303;179400302 |
| N2A | 31112 | 93559;93560;93561 | chr2:178535577;178535576;178535575 | chr2:179400304;179400303;179400302 |
| N2B | 24615 | 74068;74069;74070 | chr2:178535577;178535576;178535575 | chr2:179400304;179400303;179400302 |
| Novex-1 | 24740 | 74443;74444;74445 | chr2:178535577;178535576;178535575 | chr2:179400304;179400303;179400302 |
| Novex-2 | 24807 | 74644;74645;74646 | chr2:178535577;178535576;178535575 | chr2:179400304;179400303;179400302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs776913696  |
-0.984 | 0.995 | N | 0.581 | 0.361 | 0.32053947749 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.12E-05 | 0 |
| K/N | rs776913696 |
-0.984 | 0.995 | N | 0.581 | 0.361 | 0.32053947749 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| K/N | rs776913696 |
-0.984 | 0.995 | N | 0.581 | 0.361 | 0.32053947749 | gnomAD-4.0.0 | 5.51508E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.37394E-05 | 0 | 3.20215E-05 |
| K/R | None | None | 0.952 | N | 0.5 | 0.342 | 0.342400092842 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85799E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5528 | ambiguous | 0.5314 | ambiguous | -0.03 | Destabilizing | 0.993 | D | 0.639 | neutral | None | None | None | None | N |
| K/C | 0.7752 | likely_pathogenic | 0.7867 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| K/D | 0.9252 | likely_pathogenic | 0.9075 | pathogenic | 0.042 | Stabilizing | 0.993 | D | 0.693 | prob.neutral | None | None | None | None | N |
| K/E | 0.4146 | ambiguous | 0.3962 | ambiguous | 0.08 | Stabilizing | 0.869 | D | 0.519 | neutral | N | 0.465007755 | None | None | N |
| K/F | 0.9521 | likely_pathogenic | 0.939 | pathogenic | -0.085 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| K/G | 0.7983 | likely_pathogenic | 0.7692 | pathogenic | -0.279 | Destabilizing | 0.997 | D | 0.769 | deleterious | None | None | None | None | N |
| K/H | 0.514 | ambiguous | 0.4945 | ambiguous | -0.562 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| K/I | 0.6994 | likely_pathogenic | 0.6555 | pathogenic | 0.56 | Stabilizing | 0.989 | D | 0.809 | deleterious | None | None | None | None | N |
| K/L | 0.679 | likely_pathogenic | 0.6228 | pathogenic | 0.56 | Stabilizing | 0.806 | D | 0.769 | deleterious | None | None | None | None | N |
| K/M | 0.4204 | ambiguous | 0.3952 | ambiguous | 0.242 | Stabilizing | 0.996 | D | 0.737 | prob.delet. | N | 0.489290124 | None | None | N |
| K/N | 0.7497 | likely_pathogenic | 0.7387 | pathogenic | 0.094 | Stabilizing | 0.995 | D | 0.581 | neutral | N | 0.499544403 | None | None | N |
| K/P | 0.9916 | likely_pathogenic | 0.9915 | pathogenic | 0.393 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1307 | likely_benign | 0.1606 | benign | -0.017 | Destabilizing | 0.175 | N | 0.244 | neutral | N | 0.426644155 | None | None | N |
| K/R | 0.1321 | likely_benign | 0.1292 | benign | -0.159 | Destabilizing | 0.952 | D | 0.5 | neutral | N | 0.449174298 | None | None | N |
| K/S | 0.7307 | likely_pathogenic | 0.7282 | pathogenic | -0.389 | Destabilizing | 0.993 | D | 0.545 | neutral | None | None | None | None | N |
| K/T | 0.4106 | ambiguous | 0.3865 | ambiguous | -0.184 | Destabilizing | 0.985 | D | 0.707 | prob.neutral | N | 0.433954129 | None | None | N |
| K/V | 0.5548 | ambiguous | 0.5294 | ambiguous | 0.393 | Stabilizing | 0.975 | D | 0.795 | deleterious | None | None | None | None | N |
| K/W | 0.9618 | likely_pathogenic | 0.9574 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| K/Y | 0.8674 | likely_pathogenic | 0.8429 | pathogenic | 0.243 | Stabilizing | 0.993 | D | 0.814 | 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.