Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23659 | 71200;71201;71202 | chr2:178575157;178575156;178575155 | chr2:179439884;179439883;179439882 |
| N2AB | 22018 | 66277;66278;66279 | chr2:178575157;178575156;178575155 | chr2:179439884;179439883;179439882 |
| N2A | 21091 | 63496;63497;63498 | chr2:178575157;178575156;178575155 | chr2:179439884;179439883;179439882 |
| N2B | 14594 | 44005;44006;44007 | chr2:178575157;178575156;178575155 | chr2:179439884;179439883;179439882 |
| Novex-1 | 14719 | 44380;44381;44382 | chr2:178575157;178575156;178575155 | chr2:179439884;179439883;179439882 |
| Novex-2 | 14786 | 44581;44582;44583 | chr2:178575157;178575156;178575155 | chr2:179439884;179439883;179439882 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.797 | 0.865 | 0.620251207734 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/S | rs376256345  |
-0.603 | 1.0 | D | 0.815 | 0.677 | None | gnomAD-2.1.1 | 4.68E-05 | None | None | None | None | I | None | 4.16E-05 | 1.42304E-04 | None | 9.73E-05 | 5.24E-05 | None | 6.58E-05 | None | 0 | 2.37E-05 | 0 |
| G/S | rs376256345 |
-0.603 | 1.0 | D | 0.815 | 0.677 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | I | None | 2.41E-05 | 2.6202E-04 | 0 | 0 | 1.93648E-04 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/S | rs376256345 |
-0.603 | 1.0 | D | 0.815 | 0.677 | None | gnomAD-4.0.0 | 3.41096E-05 | None | None | None | None | I | None | 1.33533E-05 | 2.17036E-04 | None | 3.38181E-05 | 2.24175E-05 | None | 0 | 0 | 2.71356E-05 | 3.2996E-05 | 6.41046E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8168 | likely_pathogenic | 0.7725 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.565206348 | None | None | I |
| G/C | 0.9628 | likely_pathogenic | 0.9558 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.616094889 | None | None | I |
| G/D | 0.9965 | likely_pathogenic | 0.996 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.631135589 | None | None | I |
| G/E | 0.9968 | likely_pathogenic | 0.9967 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| G/F | 0.9972 | likely_pathogenic | 0.9967 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/H | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/I | 0.9947 | likely_pathogenic | 0.9947 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/K | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/L | 0.9926 | likely_pathogenic | 0.9926 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/M | 0.9977 | likely_pathogenic | 0.9976 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/N | 0.9978 | likely_pathogenic | 0.9975 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/Q | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/R | 0.995 | likely_pathogenic | 0.9946 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.631942806 | None | None | I |
| G/S | 0.921 | likely_pathogenic | 0.8997 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.57376056 | None | None | I |
| G/T | 0.9884 | likely_pathogenic | 0.9872 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/V | 0.987 | likely_pathogenic | 0.9865 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.615691281 | None | None | I |
| G/W | 0.9955 | likely_pathogenic | 0.9952 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9967 | likely_pathogenic | 0.9965 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.74 | deleterious | 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.