Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29647 | 89164;89165;89166 | chr2:178554172;178554171;178554170 | chr2:179418899;179418898;179418897 |
| N2AB | 28006 | 84241;84242;84243 | chr2:178554172;178554171;178554170 | chr2:179418899;179418898;179418897 |
| N2A | 27079 | 81460;81461;81462 | chr2:178554172;178554171;178554170 | chr2:179418899;179418898;179418897 |
| N2B | 20582 | 61969;61970;61971 | chr2:178554172;178554171;178554170 | chr2:179418899;179418898;179418897 |
| Novex-1 | 20707 | 62344;62345;62346 | chr2:178554172;178554171;178554170 | chr2:179418899;179418898;179418897 |
| Novex-2 | 20774 | 62545;62546;62547 | chr2:178554172;178554171;178554170 | chr2:179418899;179418898;179418897 |
| 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 | rs368425375  |
-0.357 | 0.999 | N | 0.707 | 0.25 | 0.207176502487 | gnomAD-2.1.1 | 8.25E-06 | None | None | None | None | N | None | 6.52E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.703E-04 |
| K/N | rs368425375 |
-0.357 | 0.999 | N | 0.707 | 0.25 | 0.207176502487 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs368425375 |
-0.357 | 0.999 | N | 0.707 | 0.25 | 0.207176502487 | gnomAD-4.0.0 | 7.72911E-06 | None | None | None | None | N | None | 1.02044E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.5053 | ambiguous | 0.5248 | ambiguous | -0.21 | Destabilizing | 0.994 | D | 0.518 | neutral | None | None | None | None | N |
| K/C | 0.7588 | likely_pathogenic | 0.764 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| K/D | 0.8761 | likely_pathogenic | 0.8951 | pathogenic | -0.757 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| K/E | 0.4306 | ambiguous | 0.4643 | ambiguous | -0.746 | Destabilizing | 0.992 | D | 0.455 | neutral | N | 0.507645733 | None | None | N |
| K/F | 0.957 | likely_pathogenic | 0.9608 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| K/G | 0.4686 | ambiguous | 0.5112 | ambiguous | -0.448 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| K/H | 0.5217 | ambiguous | 0.5459 | ambiguous | -1.004 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/I | 0.834 | likely_pathogenic | 0.8319 | pathogenic | 0.352 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| K/L | 0.765 | likely_pathogenic | 0.7681 | pathogenic | 0.352 | Stabilizing | 0.998 | D | 0.684 | prob.neutral | None | None | None | None | N |
| K/M | 0.5992 | likely_pathogenic | 0.6013 | pathogenic | 0.571 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.509654436 | None | None | N |
| K/N | 0.7499 | likely_pathogenic | 0.7708 | pathogenic | -0.232 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.489542761 | None | None | N |
| K/P | 0.8786 | likely_pathogenic | 0.8983 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| K/Q | 0.2146 | likely_benign | 0.231 | benign | -0.581 | Destabilizing | 0.998 | D | 0.704 | prob.neutral | N | 0.474406978 | None | None | N |
| K/R | 0.0741 | likely_benign | 0.0782 | benign | -0.184 | Destabilizing | 0.467 | N | 0.298 | neutral | N | 0.467610051 | None | None | N |
| K/S | 0.6071 | likely_pathogenic | 0.6302 | pathogenic | -0.674 | Destabilizing | 0.997 | D | 0.581 | neutral | None | None | None | None | N |
| K/T | 0.5543 | ambiguous | 0.5604 | ambiguous | -0.512 | Destabilizing | 0.999 | D | 0.676 | prob.neutral | N | 0.468758211 | None | None | N |
| K/V | 0.7392 | likely_pathogenic | 0.7377 | pathogenic | 0.193 | Stabilizing | 0.999 | D | 0.742 | deleterious | None | None | None | None | N |
| K/W | 0.9087 | likely_pathogenic | 0.9116 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| K/Y | 0.8707 | likely_pathogenic | 0.8802 | pathogenic | -0.136 | Destabilizing | 1.0 | D | 0.807 | 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.